Entrez Gene

Basic Information
Gene ID	22925
Name	PLA2R1
Synonymous	phospholipase A2 receptor 1, 180kDa;PLA2R1;phospholipase A2 receptor 1, 180kDa
Definition	180 kDa secretory phospholipase A2 receptor\|C-type lectin domain family 13 member C\|M-type receptor\|phospholipase A2 receptor 1, 180kD\|secretory phospholipase A2 receptor
Position	2q23-q24
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1207C>T; p.L403L; 2:160022752-160022752	skin; neck	malignant_melanoma	Substitution - coding silent
c.408C>A; p.N136K; 2:160044859-160044859	liver	carcinoma	Substitution - Missense
c.408C>A; p.N136K; 2:160044859-160044859	liver	carcinoma	Substitution - Missense
c.3560G>T; p.W1187L; 2:159949757-159949757	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.305G>C; p.S102T; 2:160044962-160044962	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2685A>G; p.I895M; 2:159969335-159969335	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.2059C>G; p.L687V; 2:159984052-159984052	breast	carcinoma	Substitution - Missense
c.2044C>A; p.H682N; 2:159984067-159984067	central_nervous_system; brain	glioma	Substitution - Missense
c.1078C>T; p.H360Y; 2:160028239-160028239	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2609G>A; p.G870D; 2:159970199-159970199	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.792A>C; p.G264G; 2:160033008-160033008	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1401G>A; p.E467E; 2:160020157-160020157	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1159C>T; p.R387C; 2:160022800-160022800	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1374C>T; p.V458V; 2:160020184-160020184	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3975C>G; p.T1325T; 2:159945075-159945075	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3568G>A; p.G1190S; 2:159949749-159949749	skin	malignant_melanoma	Substitution - Missense
c.4171G>A; p.E1391K; 2:159942133-159942133	skin	malignant_melanoma	Substitution - Missense
c.3030T>C; p.I1010I; 2:159955821-159955821	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.2042T>G; p.F681C; 2:159984069-159984069	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2394C>T; p.I798I; 2:159977291-159977291	skin	malignant_melanoma	Substitution - coding silent
c.3541-1G>A; p.?; 2:159949777-159949777	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1215T>G; p.S405S; 2:160022744-160022744	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1707A>G; p.V569V; 2:160005779-160005779	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1453-4G>T; p.?; 2:160016716-160016716	liver	carcinoma	Unknown
c.1624G>A; p.G542S; 2:160013303-160013303	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1624G>A; p.G542S; 2:160013303-160013303	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3721T>C; p.S1241P; 2:159947548-159947548	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.398C>T; p.A133V; 2:160044869-160044869	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3974C>T; p.T1325I; 2:159945076-159945076	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.465T>C; p.G155G; 2:160044802-160044802	breast	carcinoma	Substitution - coding silent
c.2970C>T; p.F990F; 2:159956562-159956562	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2881G>T; p.G961*; 2:159967562-159967562	skin	malignant_melanoma	Substitution - Nonsense
c.3467A>G; p.Y1156C; 2:159951413-159951413	liver	carcinoma	Substitution - Missense
c.2444C>G; p.P815R; 2:159976219-159976219	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3467A>G; p.Y1156C; 2:159951413-159951413	liver	carcinoma	Substitution - Missense
c.426G>A; p.R142R; 2:160044841-160044841	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2789C>T; p.S930L; 2:159967654-159967654	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2037+4A>C; p.?; 2:159987152-159987152	liver	carcinoma	Unknown
c.2505C>A; p.N835K; 2:159976158-159976158	liver	carcinoma	Substitution - Missense
c.3736T>C; p.L1246L; 2:159947533-159947533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2505C>A; p.N835K; 2:159976158-159976158	liver	carcinoma	Substitution - Missense
c.39_40insCTG; p.L13_G14insL; 2:160062364-160062365	large_intestine	carcinoma; adenocarcinoma	Insertion - In frame
c.2037+4A>C; p.?; 2:159987152-159987152	liver	carcinoma	Unknown
c.1880G>C; p.G627A; 2:159987313-159987313	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2227C>T; p.P743S; 2:159979871-159979871	skin	malignant_melanoma	Substitution - Missense
c.1760delG; p.G587fs*8; 2:160005726-160005726	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1453-1G>A; p.?; 2:160016713-160016713	skin	malignant_melanoma	Unknown
c.4024C>T; p.R1342W; 2:159945026-159945026	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.971C>A; p.P324Q; 2:160028346-160028346	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4213C>T; p.L1405L; 2:159941957-159941957	skin	malignant_melanoma	Substitution - coding silent
c.3566A>G; p.D1189G; 2:159949751-159949751	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2080G>T; p.E694*; 2:159984031-159984031	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4227C>T; p.V1409V; 2:159941943-159941943	breast	carcinoma	Substitution - coding silent
c.661G>T; p.D221Y; 2:160042031-160042031	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3598G>A; p.D1200N; 2:159949719-159949719	skin; extremity	malignant_melanoma	Substitution - Missense
c.1509delA; p.A504fs*47; 2:160016656-160016656	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3223A>C; p.N1075H; 2:159955277-159955277	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.271G>T; p.G91C; 2:160044996-160044996	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1436T>C; p.V479A; 2:160020122-160020122	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1073T>C; p.L358P; 2:160028244-160028244	breast	carcinoma	Substitution - Missense
c.271G>T; p.G91C; 2:160044996-160044996	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2382G>T; p.W794C; 2:159977303-159977303	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.797C>T; p.T266M; 2:160033003-160033003	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2424C>T; p.F808F; 2:159976698-159976698	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3519G>A; p.W1173*; 2:159951361-159951361	skin; trunk	malignant_melanoma; nodular	Substitution - Nonsense
c.3365G>A; p.G1122E; 2:159951515-159951515	skin	malignant_melanoma	Substitution - Missense
c.765G>A; p.E255E; 2:160033035-160033035	skin	malignant_melanoma	Substitution - coding silent
c.2381G>A; p.W794*; 2:159977304-159977304	skin	malignant_melanoma	Substitution - Nonsense
c.825A>C; p.E275D; 2:160032975-160032975	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3709_3709+1GG>AA; p.?; 2:159949607-159949608	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.582T>G; p.R194R; 2:160042110-160042110	skin	malignant_melanoma	Substitution - coding silent
c.2101G>T; p.E701*; 2:159984010-159984010	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2565G>A; p.E855E; 2:159976098-159976098	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3287G>A; p.C1096Y; 2:159955213-159955213	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2659C>T; p.R887C; 2:159970149-159970149	skin	malignant_melanoma	Substitution - Missense
c.2659C>T; p.R887C; 2:159970149-159970149	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4071G>A; p.L1357L; 2:159944979-159944979	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1220A>G; p.Q407R; 2:160022739-160022739	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.262G>A; p.G88S; 2:160045005-160045005	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1068delA; p.K356fs*3; 2:160028249-160028249	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.182T>A; p.L61Q; 2:160045085-160045085	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2774G>A; p.G925D; 2:159967669-159967669	breast	carcinoma	Substitution - Missense
c.2544C>T; p.L848L; 2:159976119-159976119	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1600C>T; p.R534*; 2:160013327-160013327	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3992G>A; p.G1331E; 2:159945058-159945058	skin	malignant_melanoma	Substitution - Missense
c.2419C>T; p.P807S; 2:159976703-159976703	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1487G>T; p.R496I; 2:160016678-160016678	breast	carcinoma	Substitution - Missense
c.396G>T; p.V132V; 2:160044871-160044871	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.115G>T; p.G39*; 2:160045152-160045152	skin	malignant_melanoma	Substitution - Nonsense
c.2034C>T; p.F678F; 2:159987159-159987159	skin	malignant_melanoma	Substitution - coding silent
c.37_39delCTG; p.L13delL; 2:160062365-160062367	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.2415G>T; p.K805N; 2:159976707-159976707	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.37_39delCTG; p.L13delL; 2:160062365-160062367	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.2710G>A; p.E904K; 2:159969310-159969310	skin	malignant_melanoma	Substitution - Missense
c.2668G>C; p.D890H; 2:159969352-159969352	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2691G>T; p.Q897H; 2:159969329-159969329	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3477C>T; p.S1159S; 2:159951403-159951403	skin	malignant_melanoma	Substitution - coding silent
c.620C>A; p.T207K; 2:160042072-160042072	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2977G>A; p.E993K; 2:159956555-159956555	skin	malignant_melanoma	Substitution - Missense
c.3628G>A; p.V1210I; 2:159949689-159949689	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.620C>A; p.T207K; 2:160042072-160042072	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.620C>A; p.T207K; 2:160042072-160042072	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.620C>A; p.T207K; 2:160042072-160042072	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2977G>A; p.E993K; 2:159956555-159956555	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.620C>A; p.T207K; 2:160042072-160042072	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3353C>T; p.T1118I; 2:159951527-159951527	skin	malignant_melanoma	Substitution - Missense
c.620C>A; p.T207K; 2:160042072-160042072	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.620C>A; p.T207K; 2:160042072-160042072	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.620C>A; p.T207K; 2:160042072-160042072	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4025G>A; p.R1342Q; 2:159945025-159945025	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2689C>G; p.Q897E; 2:159969331-159969331	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.4025G>A; p.R1342Q; 2:159945025-159945025	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2569G>T; p.E857*; 2:159976094-159976094	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3599A>T; p.D1200V; 2:159949718-159949718	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3712A>G; p.T1238A; 2:159947557-159947557	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2569G>T; p.E857*; 2:159976094-159976094	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1863A>G; p.R621R; 2:159987330-159987330	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4304G>A; p.R1435Q; 2:159941866-159941866	large_intestine; colon	NS	Substitution - Missense
c.2195G>A; p.R732K; 2:159979903-159979903	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1339C>T; p.P447S; 2:160020219-160020219	skin	malignant_melanoma	Substitution - Missense
c.3331G>A; p.D1111N; 2:159951549-159951549	skin	malignant_melanoma	Substitution - Missense
c.2728C>G; p.Q910E; 2:159969292-159969292	breast	carcinoma	Substitution - Missense
c.3331G>A; p.D1111N; 2:159951549-159951549	skin	malignant_melanoma	Substitution - Missense
c.2623A>G; p.I875V; 2:159970185-159970185	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1844G>A; p.G615D; 2:159987349-159987349	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1795G>T; p.E599*; 2:160005691-160005691	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2209G>A; p.G737R; 2:159979889-159979889	skin	malignant_melanoma	Substitution - Missense
c.1844G>A; p.G615D; 2:159987349-159987349	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3919G>C; p.G1307R; 2:159946849-159946849	breast	carcinoma	Substitution - Missense
c.3854C>A; p.S1285Y; 2:159946914-159946914	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4087T>G; p.L1363V; 2:159944963-159944963	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.331G>A; p.V111I; 2:160044936-160044936	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3647G>A; p.G1216E; 2:159949670-159949670	skin	malignant_melanoma	Substitution - Missense
c.4144G>C; p.D1382H; 2:159944906-159944906	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3647G>A; p.G1216E; 2:159949670-159949670	skin	malignant_melanoma	Substitution - Missense
c.986A>G; p.H329R; 2:160028331-160028331	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2569G>A; p.E857K; 2:159976094-159976094	skin; trunk	malignant_melanoma	Substitution - Missense
c.4159G>A; p.E1387K; 2:159942145-159942145	thyroid	carcinoma	Substitution - Missense
c.4159G>A; p.E1387K; 2:159942145-159942145	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1900T>C; p.C634R; 2:159987293-159987293	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.286G>A; p.A96T; 2:160044981-160044981	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4162G>T; p.A1388S; 2:159942142-159942142	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1556G>A; p.W519*; 2:160013371-160013371	skin	malignant_melanoma	Substitution - Nonsense
c.2274C>T; p.V758V; 2:159977411-159977411	skin	malignant_melanoma	Substitution - coding silent
c.862G>A; p.V288M; 2:160028943-160028943	skin; neck	malignant_melanoma	Substitution - Missense
c.720C>T; p.H240H; 2:160033080-160033080	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.609G>A; p.W203*; 2:160042083-160042083	skin	malignant_melanoma	Substitution - Nonsense
c.1046C>T; p.T349I; 2:160028271-160028271	skin	malignant_melanoma	Substitution - Missense
c.330C>T; p.L110L; 2:160044937-160044937	skin	malignant_melanoma	Substitution - coding silent
c.330C>T; p.L110L; 2:160044937-160044937	skin	malignant_melanoma	Substitution - coding silent
c.330C>T; p.L110L; 2:160044937-160044937	skin	malignant_melanoma	Substitution - coding silent
c.1118A>T; p.Y373F; 2:160022841-160022841	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2779G>A; p.E927K; 2:159967664-159967664	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3605A>G; p.E1202G; 2:159949712-159949712	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3267G>T; p.K1089N; 2:159955233-159955233	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.898C>G; p.H300D; 2:160028907-160028907	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.454G>T; p.G152W; 2:160044813-160044813	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1582A>G; p.K528E; 2:160013345-160013345	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2306A>G; p.E769G; 2:159977379-159977379	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2056G>T; p.V686F; 2:159984055-159984055	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3027C>A; p.F1009L; 2:159955824-159955824	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1473A>C; p.K491N; 2:160016692-160016692	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3027C>A; p.F1009L; 2:159955824-159955824	stomach	adenocarcinoma	Substitution - Missense
c.1747C>T; p.Q583*; 2:160005739-160005739	skin	malignant_melanoma	Substitution - Nonsense
c.1971G>A; p.E657E; 2:159987222-159987222	skin	malignant_melanoma	Substitution - coding silent
c.322T>C; p.S108P; 2:160044945-160044945	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.386C>T; p.S129F; 2:160044881-160044881	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2111C>T; p.A704V; 2:159984000-159984000	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2816G>A; p.R939Q; 2:159967627-159967627	skin	malignant_melanoma	Substitution - Missense
c.4157C>T; p.A1386V; 2:159942147-159942147	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4154C>T; p.T1385I; 2:159942150-159942150	skin	malignant_melanoma	Substitution - Missense
c.3627C>T; p.C1209C; 2:159949690-159949690	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2222G>C; p.R741T; 2:159979876-159979876	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.892G>A; p.D298N; 2:160028913-160028913	skin	malignant_melanoma	Substitution - Missense
c.892G>A; p.D298N; 2:160028913-160028913	skin	malignant_melanoma	Substitution - Missense
c.4309C>T; p.P1437S; 2:159941861-159941861	skin	malignant_melanoma	Substitution - Missense
c.892G>A; p.D298N; 2:160028913-160028913	skin	malignant_melanoma	Substitution - Missense
c.2307A>T; p.E769D; 2:159977378-159977378	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.834C>G; p.F278L; 2:160032966-160032966	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1093A>G; p.I365V; 2:160028224-160028224	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2765-6delC; p.?; 2:159967684-159967684	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.241C>T; p.L81F; 2:160045026-160045026	skin	malignant_melanoma	Substitution - Missense
c.2536G>A; p.D846N; 2:159976127-159976127	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2240G>A; p.G747D; 2:159979858-159979858	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3890C>A; p.A1297E; 2:159946878-159946878	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.357G>A; p.R119R; 2:160044910-160044910	skin	malignant_melanoma	Substitution - coding silent
c.399G>A; p.A133A; 2:160044868-160044868	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.882C>T; p.L294L; 2:160028923-160028923	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.4168C>G; p.P1390A; 2:159942136-159942136	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2279C>T; p.S760L; 2:159977406-159977406	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2279C>T; p.S760L; 2:159977406-159977406	skin	malignant_melanoma	Substitution - Missense
c.2279C>T; p.S760L; 2:159977406-159977406	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2436C>T; p.Y812Y; 2:159976686-159976686	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4244C>T; p.T1415I; 2:159941926-159941926	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4108C>G; p.Q1370E; 2:159944942-159944942	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2279C>T; p.S760L; 2:159977406-159977406	skin	malignant_melanoma	Substitution - Missense
c.1699A>G; p.S567G; 2:160005787-160005787	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4262A>G; p.Y1421C; 2:159941908-159941908	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2955G>A; p.T985T; 2:159956577-159956577	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2955G>A; p.T985T; 2:159956577-159956577	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4103C>T; p.P1368L; 2:159944947-159944947	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1279A>G; p.T427A; 2:160022680-160022680	skin	malignant_melanoma	Substitution - Missense
c.40G>C; p.G14R; 2:160062364-160062364	pancreas	other; adenoma	Substitution - Missense
c.4074G>A; p.R1358R; 2:159944976-159944976	skin	malignant_melanoma	Substitution - coding silent
c.874A>G; p.M292V; 2:160028931-160028931	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3114T>C; p.P1038P; 2:159955737-159955737	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.3794C>A; p.S1265Y; 2:159947475-159947475	breast	carcinoma	Substitution - Missense
c.3402T>G; p.T1134T; 2:159951478-159951478	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4310C>T; p.P1437L; 2:159941860-159941860	skin	malignant_melanoma	Substitution - Missense
c.356G>T; p.R119M; 2:160044911-160044911	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3972A>G; p.E1324E; 2:159945078-159945078	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.4221G>A; p.L1407L; 2:159941949-159941949	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2831T>A; p.L944H; 2:159967612-159967612	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1425C>A; p.S475R; 2:160020133-160020133	liver	carcinoma	Substitution - Missense
c.3118G>A; p.V1040I; 2:159955733-159955733	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.806G>A; p.S269N; 2:160032994-160032994	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.988T>G; p.C330G; 2:160028329-160028329	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1425C>A; p.S475R; 2:160020133-160020133	liver	carcinoma	Substitution - Missense
c.2813A>G; p.K938R; 2:159967630-159967630	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4155T>C; p.T1385T; 2:159942149-159942149	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1908C>T; p.H636H; 2:159987285-159987285	skin	malignant_melanoma	Substitution - coding silent
c.159A>T; p.Q53H; 2:160045108-160045108	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1526C>T; p.S509F; 2:160016639-160016639	skin	malignant_melanoma	Substitution - Missense
c.1526C>T; p.S509F; 2:160016639-160016639	skin; scalp	malignant_melanoma	Substitution - Missense
c.395T>G; p.V132G; 2:160044872-160044872	breast	carcinoma	Substitution - Missense
c.407A>C; p.N136T; 2:160044860-160044860	liver	carcinoma	Substitution - Missense
c.407A>C; p.N136T; 2:160044860-160044860	liver	carcinoma	Substitution - Missense
c.1782A>G; p.V594V; 2:160005704-160005704	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3829C>G; p.H1277D; 2:159947440-159947440	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.525G>A; p.G175G; 2:160042167-160042167	skin	malignant_melanoma	Substitution - coding silent
c.746C>T; p.S249L; 2:160033054-160033054	skin	malignant_melanoma	Substitution - Missense
c.1741C>T; p.Q581*; 2:160005745-160005745	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2705G>A; p.G902E; 2:159969315-159969315	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2401+1G>A; p.?; 2:159977283-159977283	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2401+1G>A; p.?; 2:159977283-159977283	ovary	carcinoma; serous_carcinoma	Unknown
c.2463T>C; p.D821D; 2:159976200-159976200	pancreas	carcinoma	Substitution - coding silent
c.4104G>A; p.P1368P; 2:159944946-159944946	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2463T>C; p.D821D; 2:159976200-159976200	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.1524C>T; p.L508L; 2:160016641-160016641	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2451C>A; p.L817L; 2:159976212-159976212	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3462_3463insTCT; p.D1154_Q1155insS; 2:159951417-159951418	pancreas	carcinoma; ductal_carcinoma	Insertion - In frame
c.1087C>T; p.H363Y; 2:160028230-160028230	skin	malignant_melanoma	Substitution - Missense
c.2062A>G; p.M688V; 2:159984049-159984049	pancreas	carcinoma	Substitution - Missense
c.1759G>A; p.G587R; 2:160005727-160005727	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Missense
c.4292delT; p.A1432fs*18; 2:159941878-159941878	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4119delA; p.G1374fs*32; 2:159944931-159944931	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.4119delA; p.G1374fs*32; 2:159944931-159944931	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2811T>G; p.C937W; 2:159967632-159967632	skin	malignant_melanoma	Substitution - Missense
c.1032G>A; p.R344R; 2:160028285-160028285	skin	malignant_melanoma	Substitution - coding silent
c.542C>T; p.P181L; 2:160042150-160042150	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.542C>T; p.P181L; 2:160042150-160042150	skin	malignant_melanoma	Substitution - Missense
c.3272G>A; p.G1091D; 2:159955228-159955228	skin	malignant_melanoma	Substitution - Missense
c.2787T>G; p.C929W; 2:159967656-159967656	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4176delA; p.G1393fs*13; 2:159942128-159942128	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4176delA; p.G1393fs*13; 2:159942128-159942128	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1758G>A; p.T586T; 2:160005728-160005728	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1758G>A; p.T586T; 2:160005728-160005728	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2653G>A; p.E885K; 2:159970155-159970155	skin	malignant_melanoma	Substitution - Missense
c.618G>A; p.T206T; 2:160042074-160042074	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2513T>G; p.F838C; 2:159976150-159976150	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.919G>C; p.D307H; 2:160028886-160028886	breast	carcinoma	Substitution - Missense
c.1969G>A; p.E657K; 2:159987224-159987224	skin	malignant_melanoma	Substitution - Missense
c.335C>T; p.S112F; 2:160044932-160044932	skin	malignant_melanoma	Substitution - Missense
c.1568G>T; p.G523V; 2:160013359-160013359	thyroid	carcinoma	Substitution - Missense
c.3463_3464insTCT; p.Q1155>L*; 2:159951416-159951417	pancreas	carcinoma	Complex - insertion inframe
c.2145G>T; p.E715D; 2:159983966-159983966	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2145G>T; p.E715D; 2:159983966-159983966	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2145G>T; p.E715D; 2:159983966-159983966	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2836G>A; p.E946K; 2:159967607-159967607	skin; scalp	malignant_melanoma	Substitution - Missense
c.4363A>G; p.I1455V; 2:159941807-159941807	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.852C>T; p.S284S; 2:160028953-160028953	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3681G>A; p.L1227L; 2:159949636-159949636	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2163C>G; p.L721L; 2:159983948-159983948	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1169A>G; p.Y390C; 2:160022790-160022790	liver	carcinoma	Substitution - Missense
c.4199C>T; p.P1400L; 2:159941971-159941971	skin	malignant_melanoma	Substitution - Missense
c.1169A>G; p.Y390C; 2:160022790-160022790	liver	carcinoma	Substitution - Missense
c.2968T>G; p.F990V; 2:159956564-159956564	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3827C>T; p.A1276V; 2:159947442-159947442	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1495_1496insT; p.Y499fs*4; 2:160016669-160016670	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1068_1069insA; p.Y357fs*6; 2:160028248-160028249	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.938A>G; p.Y313C; 2:160028867-160028867	breast	carcinoma	Substitution - Missense
c.1875A>C; p.P625P; 2:159987318-159987318	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1875A>C; p.P625P; 2:159987318-159987318	skin	malignant_melanoma	Substitution - coding silent
c.1179G>A; p.Q393Q; 2:160022780-160022780	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1875A>C; p.P625P; 2:159987318-159987318	skin	malignant_melanoma	Substitution - coding silent
c.1553G>A; p.G518E; 2:160013374-160013374	skin; mucosal	malignant_melanoma	Substitution - Missense
c.109+2T>G; p.?; 2:160062293-160062293	breast	carcinoma	Unknown
c.4119_4120insA; p.G1374fs*5; 2:159944930-159944931	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.968A>T; p.E323V; 2:160028349-160028349	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2457T>C; p.Y819Y; 2:159976206-159976206	central_nervous_system; brain	glioma	Substitution - coding silent
c.4119_4120insA; p.G1374fs*5; 2:159944930-159944931	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3331G>C; p.D1111H; 2:159951549-159951549	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2437+5G>A; p.?; 2:159976680-159976680	ovary	other; neoplasm	Unknown
c.2887C>T; p.L963L; 2:159967556-159967556	skin	malignant_melanoma	Substitution - coding silent
c.3923C>A; p.S1308Y; 2:159946845-159946845	prostate	carcinoma	Substitution - Missense
c.4205C>T; p.A1402V; 2:159941965-159941965	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1429C>T; p.L477L; 2:160020129-160020129	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1421G>T; p.R474I; 2:160020137-160020137	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3534C>G; p.T1178T; 2:159951346-159951346	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3674C>G; p.S1225*; 2:159949643-159949643	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4315T>C; p.Y1439H; 2:159941855-159941855	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.650G>A; p.G217E; 2:160042042-160042042	skin	malignant_melanoma	Substitution - Missense
c.1571G>A; p.G524E; 2:160013356-160013356	skin	malignant_melanoma	Substitution - Missense
c.1741C>G; p.Q581E; 2:160005745-160005745	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2940T>C; p.S980S; 2:159956592-159956592	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1370delC; p.S457fs*1; 2:160020188-160020188	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2855C>T; p.P952L; 2:159967588-159967588	skin	malignant_melanoma	Substitution - Missense
c.2652T>C; p.D884D; 2:159970156-159970156	skin; shoulder	malignant_melanoma	Substitution - coding silent
c.2268+8T>C; p.?; 2:159979822-159979822	liver	carcinoma	Unknown
c.2268+8T>C; p.?; 2:159979822-159979822	liver	carcinoma	Unknown
c.2867G>A; p.G956E; 2:159967576-159967576	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.3477C>G; p.S1159S; 2:159951403-159951403	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2451C>T; p.L817L; 2:159976212-159976212	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.541C>T; p.P181S; 2:160042151-160042151	skin	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]