Entrez Gene

Basic Information
Gene ID	3977
Name	LIFR
Synonymous	leukemia inhibitory factor receptor alpha;LIFR;leukemia inhibitory factor receptor alpha
Definition	CD118 antigen\|LIF receptor\|leukemia inhibitory factor receptor
Position	5p13-p12
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.196T>C; p.S66P; 5:38528787-38528787	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1847C>T; p.S616L; 5:38496420-38496420	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1171G>A; p.E391K; 5:38506025-38506025	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1171G>A; p.E391K; 5:38506025-38506025	skin	malignant_melanoma	Substitution - Missense
c.1847C>T; p.S616L; 5:38496420-38496420	skin	malignant_melanoma	Substitution - Missense
c.29G>A; p.R10Q; 5:38530619-38530619	skin	malignant_melanoma	Substitution - Missense
c.1171G>A; p.E391K; 5:38506025-38506025	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1373A>C; p.N458T; 5:38504040-38504040	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1992G>A; p.S664S; 5:38493679-38493679	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2128C>T; p.Q710*; 5:38490229-38490229	breast	carcinoma	Substitution - Nonsense
c.78C>T; p.F26F; 5:38530570-38530570	skin	malignant_melanoma	Substitution - coding silent
c.1992G>A; p.S664S; 5:38493679-38493679	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1992G>A; p.S664S; 5:38493679-38493679	breast	carcinoma	Substitution - coding silent
c.15C>T; p.Y5Y; 5:38530633-38530633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2806C>T; p.R936C; 5:38482083-38482083	skin	malignant_melanoma	Substitution - Missense
c.2806C>T; p.R936C; 5:38482083-38482083	skin	malignant_melanoma	Substitution - Missense
c.2806C>T; p.R936C; 5:38482083-38482083	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1179T>A; p.Y393*; 5:38506017-38506017	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2710A>G; p.T904A; 5:38482179-38482179	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1672-1G>A; p.?; 5:38496596-38496596	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2074C>T; p.R692*; 5:38490283-38490283	skin	malignant_melanoma	Substitution - Nonsense
c.976G>A; p.V326I; 5:38510479-38510479	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.820C>G; p.Q274E; 5:38510635-38510635	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.146C>A; p.A49D; 5:38528837-38528837	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3197G>A; p.R1066Q; 5:38481692-38481692	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1148A>G; p.K383R; 5:38506048-38506048	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2795G>A; p.R932H; 5:38482094-38482094	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2368G>A; p.D790N; 5:38485948-38485948	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1095T>C; p.R365R; 5:38506529-38506529	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1427T>C; p.V476A; 5:38503986-38503986	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2138G>A; p.R713H; 5:38490219-38490219	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1789C>T; p.R597*; 5:38496478-38496478	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.515G>T; p.W172L; 5:38523465-38523465	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1789C>T; p.R597*; 5:38496478-38496478	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1789C>T; p.R597*; 5:38496478-38496478	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1333A>C; p.N445H; 5:38504080-38504080	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.515G>T; p.W172L; 5:38523465-38523465	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2932C>G; p.Q978E; 5:38481957-38481957	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1788A>G; p.I596M; 5:38496479-38496479	liver	carcinoma	Substitution - Missense
c.1528C>T; p.R510C; 5:38502709-38502709	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.385G>T; p.E129*; 5:38527167-38527167	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1528C>T; p.R510C; 5:38502709-38502709	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1528C>T; p.R510C; 5:38502709-38502709	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.189G>A; p.W63*; 5:38528794-38528794	skin	malignant_melanoma	Substitution - Nonsense
c.1528C>T; p.R510C; 5:38502709-38502709	skin	malignant_melanoma	Substitution - Missense
c.829G>A; p.V277M; 5:38510626-38510626	skin	malignant_melanoma	Substitution - Missense
c.462C>T; p.Y154Y; 5:38523518-38523518	skin	malignant_melanoma	Substitution - coding silent
c.337A>C; p.N113H; 5:38527215-38527215	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.337A>C; p.N113H; 5:38527215-38527215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.337A>C; p.N113H; 5:38527215-38527215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2727G>A; p.E909E; 5:38482162-38482162	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2477A>T; p.Y826F; 5:38485839-38485839	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1431A>C; p.Q477H; 5:38503982-38503982	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1529G>A; p.R510H; 5:38502708-38502708	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.628C>T; p.P210S; 5:38511898-38511898	skin	malignant_melanoma	Substitution - Missense
c.790G>A; p.G264S; 5:38510665-38510665	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.177T>G; p.N59K; 5:38528806-38528806	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.404T>A; p.I135N; 5:38523576-38523576	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2660G>A; p.S887N; 5:38482599-38482599	skin	malignant_melanoma	Substitution - Missense
c.2850T>C; p.C950C; 5:38482039-38482039	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2217G>A; p.S739S; 5:38489196-38489196	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2620C>T; p.P874S; 5:38482639-38482639	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.716G>T; p.S239I; 5:38511810-38511810	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1582C>T; p.H528Y; 5:38502655-38502655	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2620C>T; p.P874S; 5:38482639-38482639	skin	malignant_melanoma	Substitution - Missense
c.2217G>A; p.S739S; 5:38489196-38489196	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1582C>T; p.H528Y; 5:38502655-38502655	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1121G>T; p.S374I; 5:38506503-38506503	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1687G>T; p.E563*; 5:38496580-38496580	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3028A>C; p.N1010H; 5:38481861-38481861	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1343C>A; p.A448D; 5:38504070-38504070	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.542G>C; p.S181T; 5:38523438-38523438	central_nervous_system; brain	glioma	Substitution - Missense
c.1153G>T; p.A385S; 5:38506043-38506043	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3248G>A; p.G1083E; 5:38481641-38481641	skin	malignant_melanoma	Substitution - Missense
c.542G>C; p.S181T; 5:38523438-38523438	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1647A>G; p.G549G; 5:38499537-38499537	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2042G>C; p.S681T; 5:38493629-38493629	skin	malignant_melanoma	Substitution - Missense
c.3185C>T; p.S1062F; 5:38481704-38481704	urinary_tract; bladder	carcinoma	Substitution - Missense
c.53A>G; p.K18R; 5:38530595-38530595	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1103G>A; p.S368N; 5:38506521-38506521	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1665T>C; p.Y555Y; 5:38499519-38499519	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.672T>C; p.I224I; 5:38511854-38511854	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2011_2012insT; p.M672fs*12; 5:38493659-38493660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Insertion - Frameshift
c.609G>A; p.W203*; 5:38511917-38511917	skin	malignant_melanoma	Substitution - Nonsense
c.758A>T; p.K253M; 5:38510697-38510697	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3160A>C; p.I1054L; 5:38481729-38481729	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3289G>A; p.D1097N; 5:38481600-38481600	skin	malignant_melanoma	Substitution - Missense
c.2953G>A; p.A985T; 5:38481936-38481936	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2564G>T; p.S855I; 5:38484802-38484802	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2940G>T; p.M980I; 5:38481949-38481949	large_intestine	adenoma	Substitution - Missense
c.2741G>A; p.R914Q; 5:38482148-38482148	skin	malignant_melanoma	Substitution - Missense
c.56G>T; p.R19I; 5:38530592-38530592	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2629G>A; p.E877K; 5:38482630-38482630	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1914G>A; p.G638G; 5:38493757-38493757	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.954C>T; p.T318T; 5:38510501-38510501	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.300T>C; p.I100I; 5:38527252-38527252	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.223C>T; p.R75C; 5:38528760-38528760	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1738G>A; p.E580K; 5:38496529-38496529	skin	malignant_melanoma	Substitution - Missense
c.364A>G; p.T122A; 5:38527188-38527188	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2060A>G; p.E687G; 5:38493611-38493611	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1948G>A; p.D650N; 5:38493723-38493723	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2060A>G; p.E687G; 5:38493611-38493611	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2585G>A; p.R862Q; 5:38484781-38484781	skin	malignant_melanoma	Substitution - Missense
c.984delT; p.F328fs*12; 5:38510471-38510471	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.60G>A; p.M20I; 5:38530588-38530588	skin	malignant_melanoma	Substitution - Missense
c.2560A>G; p.T854A; 5:38484806-38484806	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1522C>T; p.R508W; 5:38502715-38502715	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1522C>T; p.R508W; 5:38502715-38502715	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2158G>T; p.E720*; 5:38490199-38490199	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2230T>A; p.W744R; 5:38489183-38489183	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1201C>A; p.P401T; 5:38505995-38505995	skin	malignant_melanoma	Substitution - Missense
c.1354delT; p.S452fs*36; 5:38504059-38504059	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.2665T>C; p.C889R; 5:38482594-38482594	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.124G>A; p.V42I; 5:38530524-38530524	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2358G>C; p.K786N; 5:38485958-38485958	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1253G>C; p.R418P; 5:38505943-38505943	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1719A>G; p.V573V; 5:38496548-38496548	breast	carcinoma	Substitution - coding silent
c.517G>A; p.E173K; 5:38523463-38523463	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2664C>T; p.V888V; 5:38482595-38482595	skin	malignant_melanoma	Substitution - coding silent
c.3127G>A; p.D1043N; 5:38481762-38481762	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2335+1G>C; p.?; 5:38489077-38489077	lung	carcinoma; adenocarcinoma	Unknown
c.404T>C; p.I135T; 5:38523576-38523576	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2243C>T; p.P748L; 5:38489170-38489170	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3204T>G; p.F1068L; 5:38481685-38481685	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.823G>T; p.E275*; 5:38510632-38510632	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2584C>T; p.R862*; 5:38484782-38484782	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2584C>T; p.R862*; 5:38484782-38484782	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1703T>C; p.I568T; 5:38496564-38496564	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2694G>A; p.L898L; 5:38482195-38482195	skin	malignant_melanoma	Substitution - coding silent
c.944T>C; p.V315A; 5:38510511-38510511	NS	malignant_melanoma	Substitution - Missense
c.3199C>A; p.Q1067K; 5:38481690-38481690	breast	carcinoma	Substitution - Missense
c.1439G>A; p.R480Q; 5:38502798-38502798	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.532C>T; p.R178C; 5:38523448-38523448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.955G>A; p.E319K; 5:38510500-38510500	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.955G>A; p.E319K; 5:38510500-38510500	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.955G>A; p.E319K; 5:38510500-38510500	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.955G>A; p.E319K; 5:38510500-38510500	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.955G>A; p.E319K; 5:38510500-38510500	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.532C>T; p.R178C; 5:38523448-38523448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1575A>C; p.K525N; 5:38502662-38502662	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1456G>T; p.G486*; 5:38502781-38502781	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.533G>A; p.R178H; 5:38523447-38523447	oesophagus	carcinoma	Substitution - Missense
c.929G>C; p.S310T; 5:38510526-38510526	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1256C>T; p.S419L; 5:38505940-38505940	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2984C>A; p.P995H; 5:38481905-38481905	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3131C>A; p.S1044Y; 5:38481758-38481758	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2387T>C; p.L796P; 5:38485929-38485929	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1239C>G; p.H413Q; 5:38505957-38505957	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1523G>A; p.R508Q; 5:38502714-38502714	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1170C>T; p.N390N; 5:38506026-38506026	liver	carcinoma	Substitution - coding silent
c.970G>A; p.G324R; 5:38510485-38510485	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1170C>T; p.N390N; 5:38506026-38506026	liver	carcinoma	Substitution - coding silent
c.254A>G; p.N85S; 5:38528729-38528729	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.858C>T; p.N286N; 5:38510597-38510597	skin	malignant_melanoma	Substitution - coding silent
c.1732G>A; p.D578N; 5:38496535-38496535	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1732G>A; p.D578N; 5:38496535-38496535	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2466G>T; p.E822D; 5:38485850-38485850	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2994G>A; p.G998G; 5:38481895-38481895	liver	carcinoma	Substitution - coding silent
c.2994G>A; p.G998G; 5:38481895-38481895	liver	carcinoma	Substitution - coding silent
c.1965C>T; p.C655C; 5:38493706-38493706	large_intestine; rectum	adenoma	Substitution - coding silent
c.1965C>T; p.C655C; 5:38493706-38493706	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2093A>T; p.N698I; 5:38490264-38490264	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1459G>A; p.V487I; 5:38502778-38502778	skin	malignant_melanoma	Substitution - Missense
c.3194C>T; p.S1065F; 5:38481695-38481695	skin	malignant_melanoma	Substitution - Missense
c.3180A>G; p.P1060P; 5:38481709-38481709	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2915T>C; p.V972A; 5:38481974-38481974	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1405G>A; p.E469K; 5:38504008-38504008	breast	carcinoma	Substitution - Missense
c.866T>C; p.L289S; 5:38510589-38510589	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.982T>G; p.F328V; 5:38510473-38510473	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1405G>A; p.E469K; 5:38504008-38504008	skin	malignant_melanoma	Substitution - Missense
c.2107G>T; p.G703*; 5:38490250-38490250	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2227A>C; p.K743Q; 5:38489186-38489186	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2629G>T; p.E877*; 5:38482630-38482630	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.719C>T; p.P240L; 5:38511807-38511807	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1748C>T; p.S583F; 5:38496519-38496519	skin	malignant_melanoma	Substitution - Missense
c.2353delG; p.V785fs*12; 5:38485963-38485963	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1601-1G>A; p.?; 5:38499584-38499584	skin; trunk	malignant_melanoma	Unknown
c.634G>T; p.E212*; 5:38511892-38511892	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2059G>T; p.E687*; 5:38493612-38493612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.482G>A; p.G161D; 5:38523498-38523498	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2059G>T; p.E687*; 5:38493612-38493612	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1930C>T; p.L644F; 5:38493741-38493741	skin	malignant_melanoma	Substitution - Missense
c.1413G>A; p.K471K; 5:38504000-38504000	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1865C>T; p.A622V; 5:38496402-38496402	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2398G>A; p.D800N; 5:38485918-38485918	skin	malignant_melanoma	Substitution - Missense
c.828_829insA; p.V277fs*17; 5:38510626-38510627	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1865C>T; p.A622V; 5:38496402-38496402	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.356G>A; p.G119E; 5:38527196-38527196	skin	malignant_melanoma	Substitution - Missense
c.867G>A; p.L289L; 5:38510588-38510588	skin	malignant_melanoma	Substitution - coding silent
c.582G>A; p.L194L; 5:38511944-38511944	breast	carcinoma	Substitution - coding silent
c.2526C>A; p.I842I; 5:38484840-38484840	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2705C>A; p.P902H; 5:38482184-38482184	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1930C>A; p.L644I; 5:38493741-38493741	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2402T>G; p.L801R; 5:38485914-38485914	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.50A>C; p.N17T; 5:38530598-38530598	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1416A>T; p.K472N; 5:38503997-38503997	liver	carcinoma	Substitution - Missense
c.1477C>T; p.L493F; 5:38502760-38502760	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.1416A>T; p.K472N; 5:38503997-38503997	liver	carcinoma	Substitution - Missense
c.1477C>T; p.L493F; 5:38502760-38502760	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.416C>T; p.P139L; 5:38523564-38523564	skin	malignant_melanoma	Substitution - Missense
c.2705C>T; p.P902L; 5:38482184-38482184	skin	malignant_melanoma	Substitution - Missense
c.2705C>T; p.P902L; 5:38482184-38482184	skin	malignant_melanoma	Substitution - Missense
c.2502G>A; p.V834V; 5:38484864-38484864	skin	malignant_melanoma	Substitution - coding silent
c.182A>T; p.Q61L; 5:38528801-38528801	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1732G>C; p.D578H; 5:38496535-38496535	NS	NS	Substitution - Missense
c.547G>A; p.E183K; 5:38523433-38523433	skin	malignant_melanoma	Substitution - Missense
c.263G>A; p.R88H; 5:38527289-38527289	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.263G>A; p.R88H; 5:38527289-38527289	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1985G>A; p.C662Y; 5:38493686-38493686	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2063C>T; p.S688F; 5:38493608-38493608	skin	malignant_melanoma	Substitution - Missense
c.375C>G; p.F125L; 5:38527177-38527177	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.403A>G; p.I135V; 5:38523577-38523577	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.669C>T; p.Y223Y; 5:38511857-38511857	thyroid	carcinoma	Substitution - coding silent
c.1598C>A; p.A533D; 5:38502639-38502639	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2481G>T; p.V827V; 5:38485835-38485835	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3151A>T; p.N1051Y; 5:38481738-38481738	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1139T>C; p.V380A; 5:38506057-38506057	skin	malignant_melanoma	Substitution - Missense
c.35C>T; p.S12F; 5:38530613-38530613	skin	malignant_melanoma	Substitution - Missense
c.1456G>A; p.G486R; 5:38502781-38502781	skin	malignant_melanoma	Substitution - Missense
c.3016C>T; p.H1006Y; 5:38481873-38481873	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.129T>C; p.N43N; 5:38530519-38530519	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1730C>T; p.S577L; 5:38496537-38496537	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3173G>A; p.G1058E; 5:38481716-38481716	skin	malignant_melanoma	Substitution - Missense
c.1123T>G; p.F375V; 5:38506073-38506073	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1079C>T; p.A360V; 5:38506545-38506545	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3179C>T; p.P1060L; 5:38481710-38481710	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2435G>A; p.R812Q; 5:38485881-38485881	skin	malignant_melanoma	Substitution - Missense
c.2435G>A; p.R812Q; 5:38485881-38485881	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2910A>T; p.A970A; 5:38481979-38481979	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.208C>A; p.P70T; 5:38528775-38528775	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.705G>A; p.W235*; 5:38511821-38511821	skin	malignant_melanoma	Substitution - Nonsense
c.2033C>T; p.P678L; 5:38493638-38493638	skin	malignant_melanoma	Substitution - Missense
c.590A>T; p.K197I; 5:38511936-38511936	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.62_63insAGAATGAG; p.T22fs*2; 5:38530585-38530586	ovary	carcinoma; clear_cell_carcinoma	Insertion - Frameshift
c.350A>G; p.D117G; 5:38527202-38527202	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1686T>C; p.N562N; 5:38496581-38496581	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1646G>A; p.G549E; 5:38499538-38499538	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1891C>T; p.L631F; 5:38493780-38493780	skin	malignant_melanoma	Substitution - Missense
c.3250G>C; p.G1084R; 5:38481639-38481639	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2904G>A; p.G968G; 5:38481985-38481985	skin	malignant_melanoma	Substitution - coding silent
c.409G>A; p.D137N; 5:38523571-38523571	skin	malignant_melanoma	Substitution - Missense
c.92C>G; p.S31*; 5:38530556-38530556	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.766C>T; p.P256S; 5:38510689-38510689	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2752C>T; p.P918S; 5:38482137-38482137	skin	malignant_melanoma	Substitution - Missense
c.2057T>G; p.I686R; 5:38493614-38493614	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.123A>G; p.Q41Q; 5:38530525-38530525	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1886-1G>C; p.?; 5:38493786-38493786	breast	carcinoma	Unknown
c.1352T>C; p.L451P; 5:38504061-38504061	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1897A>G; p.I633V; 5:38493774-38493774	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2131T>C; p.L711L; 5:38490226-38490226	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.484T>A; p.S162T; 5:38523496-38523496	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.2036C>T; p.S679L; 5:38493635-38493635	breast	carcinoma	Substitution - Missense
c.667T>C; p.Y223H; 5:38511859-38511859	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2803G>A; p.D935N; 5:38482086-38482086	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2024G>T; p.R675I; 5:38493647-38493647	breast	carcinoma	Substitution - Missense
c.1677A>G; p.L559L; 5:38496590-38496590	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1932C>T; p.L644L; 5:38493739-38493739	skin	malignant_melanoma	Substitution - coding silent
c.587G>A; p.G196D; 5:38511939-38511939	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2830C>T; p.H944Y; 5:38482059-38482059	skin	malignant_melanoma	Substitution - Missense
c.1380A>G; p.A460A; 5:38504033-38504033	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.224G>A; p.R75H; 5:38528759-38528759	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.2161G>T; p.E721*; 5:38490196-38490196	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2392A>C; p.I798L; 5:38485924-38485924	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1547T>C; p.F516S; 5:38502690-38502690	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2599G>A; p.E867K; 5:38482660-38482660	skin	malignant_melanoma	Substitution - Missense
c.1994C>A; p.S665Y; 5:38493677-38493677	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2491G>A; p.E831K; 5:38485825-38485825	skin	malignant_melanoma	Substitution - Missense
c.2504G>T; p.G835V; 5:38484862-38484862	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.655G>A; p.E219K; 5:38511871-38511871	skin	malignant_melanoma	Substitution - Missense
c.2251G>A; p.E751K; 5:38489162-38489162	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3265A>C; p.N1089H; 5:38481624-38481624	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.418G>C; p.E140Q; 5:38523562-38523562	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2138G>T; p.R713L; 5:38490219-38490219	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1885+1G>C; p.?; 5:38496381-38496381	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2313T>C; p.S771S; 5:38489100-38489100	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.309_315delTTCACAT; p.S104fs*5; 5:38527237-38527243	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2909C>T; p.A970V; 5:38481980-38481980	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.108A>G; p.L36L; 5:38530540-38530540	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - coding silent
c.1464A>C; p.E488D; 5:38502773-38502773	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1830A>G; p.K610K; 5:38496437-38496437	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.443_444insTT; p.T150fs*7; 5:38523536-38523537	lung	carcinoma; small_cell_carcinoma	Insertion - Frameshift
c.2466G>A; p.E822E; 5:38485850-38485850	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1611G>T; p.K537N; 5:38499573-38499573	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.53A>C; p.K18T; 5:38530595-38530595	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1819G>A; p.V607I; 5:38496448-38496448	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1551G>A; p.W517*; 5:38502686-38502686	skin	malignant_melanoma	Substitution - Nonsense
c.514delT; p.W172fs*14; 5:38523466-38523466	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.2272G>A; p.G758R; 5:38489141-38489141	skin	malignant_melanoma	Substitution - Missense
c.1042G>T; p.E348*; 5:38506582-38506582	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1042G>T; p.E348*; 5:38506582-38506582	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3029A>T; p.N1010I; 5:38481860-38481860	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2312C>T; p.S771F; 5:38489101-38489101	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1330A>G; p.I444V; 5:38504083-38504083	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2337T>C; p.G779G; 5:38485979-38485979	skin	malignant_melanoma	Substitution - coding silent
c.1331T>A; p.I444N; 5:38504082-38504082	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1267A>G; p.I423V; 5:38505929-38505929	skin	malignant_melanoma	Substitution - Missense
c.2504G>A; p.G835E; 5:38484862-38484862	skin	malignant_melanoma	Substitution - Missense
c.1337C>G; p.S446*; 5:38504076-38504076	breast	carcinoma	Substitution - Nonsense
c.1337C>G; p.S446*; 5:38504076-38504076	breast	carcinoma	Substitution - Nonsense
c.142G>A; p.G48R; 5:38530506-38530506	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3086G>A; p.R1029K; 5:38481803-38481803	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.553G>A; p.V185I; 5:38523427-38523427	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2453G>A; p.G818E; 5:38485863-38485863	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2993G>A; p.G998E; 5:38481896-38481896	skin	malignant_melanoma	Substitution - Missense
c.675C>T; p.D225D; 5:38511851-38511851	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1488G>A; p.L496L; 5:38502749-38502749	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3074C>A; p.T1025N; 5:38481815-38481815	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.337A>T; p.N113Y; 5:38527215-38527215	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2231G>A; p.W744*; 5:38489182-38489182	skin	malignant_melanoma	Substitution - Nonsense
c.2263T>G; p.F755V; 5:38489150-38489150	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3137G>T; p.R1046I; 5:38481752-38481752	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1090C>A; p.P364T; 5:38506534-38506534	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3196C>T; p.R1066*; 5:38481693-38481693	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.905G>A; p.R302H; 5:38510550-38510550	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1245G>A; p.P415P; 5:38505951-38505951	skin	malignant_melanoma	Substitution - coding silent
c.1524G>A; p.R508R; 5:38502713-38502713	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.2100C>T; p.F700F; 5:38490257-38490257	skin	malignant_melanoma	Substitution - coding silent
c.1046T>G; p.I349S; 5:38506578-38506578	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1884T>G; p.N628K; 5:38496383-38496383	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2505A>G; p.G835G; 5:38484861-38484861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.16G>A; p.V6I; 5:38530632-38530632	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.826A>G; p.K276E; 5:38510629-38510629	liver	carcinoma	Substitution - Missense
c.826A>G; p.K276E; 5:38510629-38510629	liver	carcinoma	Substitution - Missense
c.2654A>T; p.Q885L; 5:38482605-38482605	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2029G>T; p.V677F; 5:38493642-38493642	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2075G>A; p.R692Q; 5:38490282-38490282	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2450G>A; p.G817D; 5:38485866-38485866	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.2450G>A; p.G817D; 5:38485866-38485866	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3250G>A; p.G1084R; 5:38481639-38481639	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3250G>A; p.G1084R; 5:38481639-38481639	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]