Entrez Gene

Basic Information
Gene ID	8888
Name	MCM3AP
Synonymous	minichromosome maintenance complex component 3 associated protein;MCM3AP;minichromosome maintenance complex component 3 associated protein
Definition	80 kDa MCM3-associated protein\|MCM3 acetylating protein\|MCM3 acetyltransferase\|MCM3 import protein\|MCM3 minichromosome maintenance deficient 3 associated protein\|germinal center-associated nuclear protein\|germinal-center associated nuclear protein\|germina
Position	21q22.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2970C>T; p.I990I; 21:46265986-46265986	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.79T>G; p.S27A; 21:46285208-46285208	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4268T>C; p.I1423T; 21:46251551-46251551	skin; scalp	malignant_melanoma	Substitution - Missense
c.2183G>A; p.R728H; 21:46273401-46273401	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1547T>C; p.L516P; 21:46280113-46280113	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2202C>T; p.I734I; 21:46272824-46272824	skin	malignant_melanoma	Substitution - coding silent
c.1960C>T; p.Q654*; 21:46275224-46275224	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1509C>T; p.H503H; 21:46280510-46280510	central_nervous_system; brain	glioma	Substitution - coding silent
c.2179_2180AC>TT; p.T727L; 21:46273404-46273405	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3243G>T; p.A1081A; 21:46264209-46264209	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5037G>A; p.G1679G; 21:46244808-46244808	skin	malignant_melanoma	Substitution - coding silent
c.3636C>T; p.V1212V; 21:46259037-46259037	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.5039-2A>G; p.?; 21:46243724-46243724	breast	carcinoma	Unknown
c.5685G>A; p.T1895T; 21:46236928-46236928	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3993G>A; p.Q1331Q; 21:46254784-46254784	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5039-2A>G; p.?; 21:46243724-46243724	stomach	carcinoma; adenocarcinoma	Unknown
c.2599G>A; p.A867T; 21:46270430-46270430	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5278C>T; p.R1760W; 21:46243483-46243483	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5278C>T; p.R1760W; 21:46243483-46243483	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5845C>T; p.R1949*; 21:46235366-46235366	kidney	carcinoma; renal_cell_carcinoma	Substitution - Nonsense
c.4608G>A; p.E1536E; 21:46246346-46246346	skin	malignant_melanoma	Substitution - coding silent
c.4608G>A; p.E1536E; 21:46246346-46246346	skin	malignant_melanoma	Substitution - coding silent
c.5296+2T>C; p.?; 21:46243463-46243463	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1777A>G; p.S593G; 21:46277608-46277608	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1261G>A; p.E421K; 21:46283797-46283797	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1374A>C; p.K458N; 21:46283684-46283684	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1261G>A; p.E421K; 21:46283797-46283797	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4872C>A; p.S1624S; 21:46244973-46244973	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3232G>A; p.E1078K; 21:46265323-46265323	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4907C>T; p.T1636I; 21:46244938-46244938	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5259G>A; p.L1753L; 21:46243502-46243502	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2276C>A; p.A759D; 21:46272750-46272750	skin	malignant_melanoma	Substitution - Missense
c.1192G>T; p.E398*; 21:46284095-46284095	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1927G>C; p.E643Q; 21:46275257-46275257	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1701C>T; p.A567A; 21:46277684-46277684	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - coding silent
c.2704G>A; p.D902N; 21:46267067-46267067	breast	carcinoma	Substitution - Missense
c.4927_4928delGG; p.G1643fs*77; 21:46244917-46244918	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Deletion - Frameshift
c.2975A>G; p.E992G; 21:46265981-46265981	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2691C>T; p.T897T; 21:46267080-46267080	skin	malignant_melanoma	Substitution - coding silent
c.1704C>T; p.H568H; 21:46277681-46277681	skin	malignant_melanoma	Substitution - coding silent
c.962C>T; p.P321L; 21:46284325-46284325	skin	malignant_melanoma	Substitution - Missense
c.2452G>A; p.G818R; 21:46272574-46272574	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.434G>T; p.S145I; 21:46284853-46284853	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3536G>A; p.R1179H; 21:46260838-46260838	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4347C>A; p.D1449E; 21:46246830-46246830	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3536G>A; p.R1179H; 21:46260838-46260838	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4528G>A; p.V1510I; 21:46246649-46246649	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4267A>G; p.I1423V; 21:46251552-46251552	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2575G>A; p.V859I; 21:46270454-46270454	pancreas	carcinoma	Substitution - Missense
c.95G>A; p.R32Q; 21:46285192-46285192	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4768C>T; p.H1590Y; 21:46245077-46245077	pancreas	carcinoma	Substitution - Missense
c.5231T>C; p.L1744P; 21:46243530-46243530	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.183T>C; p.S61S; 21:46285104-46285104	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1974C>T; p.F658F; 21:46275210-46275210	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1974C>T; p.F658F; 21:46275210-46275210	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1688G>A; p.S563N; 21:46277697-46277697	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1090A>G; p.T364A; 21:46284197-46284197	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.838C>T; p.Q280*; 21:46284449-46284449	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1327C>T; p.P443S; 21:46283731-46283731	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3061G>T; p.E1021*; 21:46265494-46265494	large_intestine; colon	carcinoma	Substitution - Nonsense
c.3061G>T; p.E1021*; 21:46265494-46265494	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1512G>A; p.R504R; 21:46280507-46280507	skin	malignant_melanoma	Substitution - coding silent
c.4340A>C; p.Q1447P; 21:46246837-46246837	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.305C>T; p.S102L; 21:46284982-46284982	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.305C>T; p.S102L; 21:46284982-46284982	skin	malignant_melanoma	Substitution - Missense
c.4137-6C>A; p.?; 21:46251688-46251688	breast	carcinoma	Unknown
c.305C>T; p.S102L; 21:46284982-46284982	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.305C>T; p.S102L; 21:46284982-46284982	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2078C>T; p.P693L; 21:46273506-46273506	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3442G>A; p.E1148K; 21:46261305-46261305	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2133G>T; p.Q711H; 21:46273451-46273451	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2263C>T; p.H755Y; 21:46272763-46272763	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2133G>T; p.Q711H; 21:46273451-46273451	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2133G>T; p.Q711H; 21:46273451-46273451	large_intestine; colon	carcinoma	Substitution - Missense
c.2133G>T; p.Q711H; 21:46273451-46273451	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5236G>A; p.A1746T; 21:46243525-46243525	breast	carcinoma	Substitution - Missense
c.4728C>T; p.V1576V; 21:46245117-46245117	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.150G>A; p.S50S; 21:46285137-46285137	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5879C>T; p.S1960L; 21:46235332-46235332	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1023G>T; p.T341T; 21:46284264-46284264	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.407A>G; p.N136S; 21:46284880-46284880	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1225C>G; p.L409V; 21:46283833-46283833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1082A>C; p.K361T; 21:46284205-46284205	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4056T>C; p.P1352P; 21:46254472-46254472	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4230G>A; p.S1410S; 21:46251589-46251589	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.4230G>A; p.S1410S; 21:46251589-46251589	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.180G>A; p.A60A; 21:46285107-46285107	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.180G>A; p.A60A; 21:46285107-46285107	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3487C>T; p.L1163L; 21:46260887-46260887	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3690G>T; p.K1230N; 21:46258983-46258983	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3487C>T; p.L1163L; 21:46260887-46260887	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5235C>T; p.I1745I; 21:46243526-46243526	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1582C>T; p.P528S; 21:46280078-46280078	skin	malignant_melanoma	Substitution - Missense
c.1821C>T; p.Y607Y; 21:46277564-46277564	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1406G>A; p.R469H; 21:46283652-46283652	breast	carcinoma	Substitution - Missense
c.3807C>A; p.C1269*; 21:46256914-46256914	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.662C>T; p.A221V; 21:46284625-46284625	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5369T>G; p.L1790W; 21:46242859-46242859	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3242C>T; p.A1081V; 21:46264210-46264210	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1663A>G; p.K555E; 21:46279997-46279997	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1277T>C; p.L426P; 21:46283781-46283781	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1736C>T; p.S579F; 21:46277649-46277649	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5342A>G; p.N1781S; 21:46242886-46242886	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5519C>T; p.A1840V; 21:46240925-46240925	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5654A>G; p.Q1885R; 21:46236959-46236959	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4302C>T; p.G1434G; 21:46246875-46246875	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.4302C>T; p.G1434G; 21:46246875-46246875	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.5654A>G; p.Q1885R; 21:46236959-46236959	stomach	adenocarcinoma	Substitution - Missense
c.3519C>T; p.A1173A; 21:46260855-46260855	ovary	other; neoplasm	Substitution - coding silent
c.2349G>C; p.L783L; 21:46272677-46272677	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1473_1474insG; p.K492fs*5; 21:46280545-46280546	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.5922G>T; p.L1974L; 21:46235289-46235289	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4535A>G; p.K1512R; 21:46246642-46246642	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3721A>G; p.K1241E; 21:46258952-46258952	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3336-6G>A; p.?; 21:46261417-46261417	oesophagus	carcinoma; adenocarcinoma	Unknown
c.4760G>A; p.R1587H; 21:46245085-46245085	breast	carcinoma	Substitution - Missense
c.3782G>A; p.R1261Q; 21:46256939-46256939	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2460C>T; p.I820I; 21:46272566-46272566	breast	carcinoma	Substitution - coding silent
c.2459T>G; p.I820S; 21:46272567-46272567	skin; neck	malignant_melanoma	Substitution - Missense
c.4499T>A; p.V1500D; 21:46246678-46246678	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1005T>C; p.G335G; 21:46284282-46284282	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1630G>A; p.A544T; 21:46280030-46280030	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2275G>A; p.A759T; 21:46272751-46272751	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1630G>A; p.A544T; 21:46280030-46280030	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.5590T>A; p.C1864S; 21:46240854-46240854	skin	malignant_melanoma	Substitution - Missense
c.1747G>A; p.E583K; 21:46277638-46277638	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1954C>T; p.R652C; 21:46275230-46275230	breast	carcinoma	Substitution - Missense
c.3824G>A; p.R1275Q; 21:46256897-46256897	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.705G>C; p.K235N; 21:46284582-46284582	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1256G>A; p.R419K; 21:46283802-46283802	breast	carcinoma	Substitution - Missense
c.1003G>T; p.G335C; 21:46284284-46284284	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4726G>A; p.V1576I; 21:46245119-46245119	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4726G>A; p.V1576I; 21:46245119-46245119	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1928A>C; p.E643A; 21:46275256-46275256	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4841G>C; p.S1614T; 21:46245004-46245004	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.5278delC; p.R1760fs*9; 21:46243483-46243483	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5278delC; p.R1760fs*9; 21:46243483-46243483	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3734+1G>A; p.?; 21:46258938-46258938	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.5278delC; p.R1760fs*9; 21:46243483-46243483	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5278delC; p.R1760fs*9; 21:46243483-46243483	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2418C>T; p.F806F; 21:46272608-46272608	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1525C>T; p.P509S; 21:46280135-46280135	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2598C>T; p.N866N; 21:46270431-46270431	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5365_5366CC>TT; p.P1789F; 21:46242862-46242863	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2598C>T; p.N866N; 21:46270431-46270431	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2664G>A; p.A888A; 21:46267107-46267107	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1554G>C; p.E518D; 21:46280106-46280106	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4606G>A; p.E1536K; 21:46246348-46246348	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1773C>G; p.S591S; 21:46277612-46277612	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2672T>C; p.V891A; 21:46267099-46267099	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.528_529insT; p.T177fs*7; 21:46284758-46284759	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.294G>T; p.G98G; 21:46284993-46284993	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.5796G>T; p.M1932I; 21:46235415-46235415	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3734G>T; p.R1245L; 21:46258939-46258939	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3734G>T; p.R1245L; 21:46258939-46258939	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1323C>T; p.N441N; 21:46283735-46283735	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.149C>T; p.S50L; 21:46285138-46285138	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2621T>A; p.F874Y; 21:46270408-46270408	skin	malignant_melanoma	Substitution - Missense
c.2152delG; p.D718fs*26; 21:46273432-46273432	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2204C>T; p.T735M; 21:46272822-46272822	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3243G>A; p.A1081A; 21:46264209-46264209	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3676T>C; p.F1226L; 21:46258997-46258997	pancreas	carcinoma	Substitution - Missense
c.2325T>C; p.N775N; 21:46272701-46272701	ovary	other; neoplasm	Substitution - coding silent
c.924_925>C; p.A309fs*21; 21:46284362-46284363	lung	carcinoma; non_small_cell_carcinoma	Complex - frameshift
c.924_925>C; p.A309fs*21; 21:46284362-46284363	lung	carcinoma; non_small_cell_carcinoma	Complex - frameshift
c.899C>T; p.S300F; 21:46284388-46284388	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1737C>A; p.S579S; 21:46277648-46277648	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1369delG; p.G457fs*51; 21:46283689-46283689	lung	carcinoma; non_small_cell_carcinoma	Deletion - Frameshift
c.1369delG; p.G457fs*51; 21:46283689-46283689	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5597C>T; p.S1866L; 21:46240847-46240847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4399G>A; p.E1467K; 21:46246778-46246778	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1522A>G; p.S508G; 21:46280497-46280497	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4325A>C; p.D1442A; 21:46246852-46246852	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4325A>C; p.D1442A; 21:46246852-46246852	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1451C>T; p.A484V; 21:46280568-46280568	urinary_tract; bladder	carcinoma	Substitution - Missense
c.535T>A; p.S179T; 21:46284752-46284752	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2959A>T; p.N987Y; 21:46265997-46265997	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4679A>C; p.H1560P; 21:46245166-46245166	breast	carcinoma	Substitution - Missense
c.4939C>T; p.L1647F; 21:46244906-46244906	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2931T>C; p.H977H; 21:46266025-46266025	breast	carcinoma	Substitution - coding silent
c.2232G>A; p.T744T; 21:46272794-46272794	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4398T>G; p.S1466R; 21:46246779-46246779	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5796G>A; p.M1932I; 21:46235415-46235415	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2931T>C; p.H977H; 21:46266025-46266025	thyroid	other; neoplasm	Substitution - coding silent
c.2931T>C; p.H977H; 21:46266025-46266025	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1794T>C; p.T598T; 21:46277591-46277591	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4759C>T; p.R1587C; 21:46245086-46245086	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5140C>A; p.L1714I; 21:46243621-46243621	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4181G>A; p.G1394D; 21:46251638-46251638	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.992G>A; p.R331Q; 21:46284295-46284295	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4759C>T; p.R1587C; 21:46245086-46245086	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3262A>G; p.I1088V; 21:46264190-46264190	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3485A>C; p.E1162A; 21:46260889-46260889	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.3091C>T; p.Q1031*; 21:46265464-46265464	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.536_537CC>TT; p.S179F; 21:46284750-46284751	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3591A>G; p.V1197V; 21:46259082-46259082	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2929C>T; p.H977Y; 21:46266027-46266027	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1852C>T; p.R618W; 21:46277533-46277533	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4791G>A; p.L1597L; 21:46245054-46245054	breast	carcinoma	Substitution - coding silent
c.3537C>T; p.R1179R; 21:46260837-46260837	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2886C>T; p.V962V; 21:46266070-46266070	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.50C>A; p.A17E; 21:46285237-46285237	oesophagus	carcinoma	Substitution - Missense
c.2068G>A; p.E690K; 21:46273516-46273516	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1391G>A; p.R464H; 21:46283667-46283667	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.86C>T; p.P29L; 21:46285201-46285201	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3756C>T; p.A1252A; 21:46256965-46256965	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.39T>C; p.S13S; 21:46285248-46285248	liver	carcinoma	Substitution - coding silent
c.408C>T; p.N136N; 21:46284879-46284879	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.39T>C; p.S13S; 21:46285248-46285248	liver	carcinoma	Substitution - coding silent
c.1237C>T; p.P413S; 21:46283821-46283821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4531G>A; p.E1511K; 21:46246646-46246646	skin	malignant_melanoma	Substitution - Missense
c.5169C>T; p.S1723S; 21:46243592-46243592	breast	carcinoma	Substitution - coding silent
c.94C>T; p.R32*; 21:46285193-46285193	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4793G>A; p.G1598D; 21:46245052-46245052	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2256C>T; p.T752T; 21:46272770-46272770	skin	malignant_melanoma	Substitution - coding silent
c.3400G>T; p.A1134S; 21:46261347-46261347	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4552C>A; p.L1518M; 21:46246402-46246402	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5344G>A; p.D1782N; 21:46242884-46242884	skin	malignant_melanoma	Substitution - Missense
c.3400G>T; p.A1134S; 21:46261347-46261347	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3833C>T; p.A1278V; 21:46256888-46256888	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.385C>T; p.Q129*; 21:46284902-46284902	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4101G>A; p.P1367P; 21:46254427-46254427	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.536C>T; p.S179F; 21:46284751-46284751	skin	malignant_melanoma	Substitution - Missense
c.4999G>A; p.G1667R; 21:46244846-46244846	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3569C>T; p.S1190F; 21:46260805-46260805	skin	malignant_melanoma	Substitution - Missense
c.3700C>T; p.Q1234*; 21:46258973-46258973	skin	malignant_melanoma	Substitution - Nonsense
c.2673G>A; p.V891V; 21:46267098-46267098	breast	carcinoma	Substitution - coding silent
c.3807C>T; p.C1269C; 21:46256914-46256914	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2965T>C; p.Y989H; 21:46265991-46265991	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5770A>G; p.T1924A; 21:46236843-46236843	skin	malignant_melanoma	Substitution - Missense
c.5479C>T; p.L1827F; 21:46240965-46240965	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.137C>T; p.S46F; 21:46285150-46285150	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2955C>A; p.S985S; 21:46266001-46266001	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5277C>T; p.P1759P; 21:46243484-46243484	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4319C>T; p.A1440V; 21:46246858-46246858	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1946G>A; p.R649Q; 21:46275238-46275238	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.647A>G; p.N216S; 21:46284640-46284640	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2407G>A; p.E803K; 21:46272619-46272619	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5446C>T; p.H1816Y; 21:46240998-46240998	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4794C>T; p.G1598G; 21:46245051-46245051	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4681T>C; p.C1561R; 21:46245164-46245164	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.826G>A; p.E276K; 21:46284461-46284461	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5803C>T; p.Q1935*; 21:46235408-46235408	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5647C>T; p.L1883F; 21:46236966-46236966	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2464A>T; p.R822*; 21:46272562-46272562	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.567G>T; p.L189L; 21:46284720-46284720	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1914G>A; p.L638L; 21:46275270-46275270	skin	malignant_melanoma	Substitution - coding silent
c.5278_5279insC; p.R1760fs*11; 21:46243482-46243483	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4729G>A; p.E1577K; 21:46245116-46245116	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4278C>T; p.N1426N; 21:46251541-46251541	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4922C>A; p.A1641E; 21:46244923-46244923	breast	carcinoma	Substitution - Missense
c.4782G>C; p.E1594D; 21:46245063-46245063	NS	NS	Substitution - Missense
c.2988G>A; p.A996A; 21:46265968-46265968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3099A>G; p.L1033L; 21:46265456-46265456	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.218T>C; p.L73S; 21:46285069-46285069	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3681G>C; p.Q1227H; 21:46258992-46258992	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4574C>T; p.S1525L; 21:46246380-46246380	skin	malignant_melanoma	Substitution - Missense
c.2254A>T; p.T752S; 21:46272772-46272772	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1755C>T; p.L585L; 21:46277630-46277630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1406G>T; p.R469L; 21:46283652-46283652	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4569G>C; p.L1523F; 21:46246385-46246385	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1579A>G; p.S527G; 21:46280081-46280081	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3850G>A; p.E1284K; 21:46256871-46256871	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4303G>A; p.A1435T; 21:46246874-46246874	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4825A>G; p.I1609V; 21:46245020-46245020	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5214G>A; p.E1738E; 21:46243547-46243547	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4725C>T; p.Y1575Y; 21:46245120-46245120	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3798G>A; p.A1266A; 21:46256923-46256923	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1975G>A; p.E659K; 21:46275209-46275209	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1975G>A; p.E659K; 21:46275209-46275209	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5396C>T; p.T1799M; 21:46242832-46242832	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5822C>T; p.A1941V; 21:46235389-46235389	breast	carcinoma	Substitution - Missense
c.4118C>T; p.S1373F; 21:46254410-46254410	skin	malignant_melanoma	Substitution - Missense
c.5337_5338insCC; p.K1780fs*5; 21:46242890-46242891	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.5822C>T; p.A1941V; 21:46235389-46235389	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2806C>T; p.R936W; 21:46266150-46266150	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.568G>T; p.A190S; 21:46284719-46284719	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3813C>T; p.D1271D; 21:46256908-46256908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5337_5338insT; p.K1780fs*1; 21:46242890-46242891	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1889C>T; p.A630V; 21:46275295-46275295	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3582G>T; p.K1194N; 21:46259091-46259091	skin	malignant_melanoma	Substitution - Missense
c.2176C>T; p.R726C; 21:46273408-46273408	skin	malignant_melanoma	Substitution - Missense
c.1199A>G; p.E400G; 21:46284088-46284088	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5842G>A; p.E1948K; 21:46235369-46235369	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1199A>G; p.E400G; 21:46284088-46284088	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5852A>C; p.K1951T; 21:46235359-46235359	liver	carcinoma	Substitution - Missense
c.1871G>T; p.R624I; 21:46275313-46275313	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.50C>T; p.A17V; 21:46285237-46285237	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5852A>C; p.K1951T; 21:46235359-46235359	liver	carcinoma	Substitution - Missense
c.50C>T; p.A17V; 21:46285237-46285237	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5842G>A; p.E1948K; 21:46235369-46235369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.95G>T; p.R32L; 21:46285192-46285192	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.95G>T; p.R32L; 21:46285192-46285192	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2409A>G; p.E803E; 21:46272617-46272617	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2158T>C; p.Y720H; 21:46273426-46273426	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1093G>A; p.G365S; 21:46284194-46284194	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2039C>T; p.S680L; 21:46273545-46273545	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4414G>C; p.E1472Q; 21:46246763-46246763	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1272C>T; p.D424D; 21:46283786-46283786	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2410G>A; p.A804T; 21:46272616-46272616	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2701C>T; p.L901L; 21:46267070-46267070	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.501C>T; p.T167T; 21:46284786-46284786	liver	carcinoma	Substitution - coding silent
c.1618C>A; p.L540I; 21:46280042-46280042	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.501C>T; p.T167T; 21:46284786-46284786	liver	carcinoma	Substitution - coding silent
c.2410G>A; p.A804T; 21:46272616-46272616	stomach	adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]