Entrez Gene

Basic Information
Gene ID	5933
Name	RBL1
Synonymous	retinoblastoma-like 1;RBL1;retinoblastoma-like 1
Definition	107 kDa retinoblastoma-associated protein\|cellular protein 107\|retinoblastoma-like 1 (p107)\|retinoblastoma-like protein 1
Position	20q11.2
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.13.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.54G>T; p.G18G; 20:37095875-37095875	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2084C>T; p.S695L; 20:37035328-37035328	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.3142C>T; p.Q1048*; 20:36998824-36998824	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2266C>A; p.H756N; 20:37032781-37032781	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2899C>T; p.P967S; 20:37003839-37003839	skin	malignant_melanoma	Substitution - Missense
c.387T>C; p.F129F; 20:37068090-37068090	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1174C>A; p.Q392K; 20:37061179-37061179	skin	malignant_melanoma	Substitution - Missense
c.387T>C; p.F129F; 20:37068090-37068090	breast	carcinoma	Substitution - coding silent
c.3029C>A; p.P1010H; 20:37003709-37003709	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2382G>C; p.K794N; 20:37032665-37032665	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2855C>T; p.A952V; 20:37007427-37007427	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1318C>G; p.Q440E; 20:37056191-37056191	breast	carcinoma	Substitution - Missense
c.1428G>A; p.M476I; 20:37055592-37055592	skin	malignant_melanoma	Substitution - Missense
c.3124C>T; p.P1042S; 20:36998842-36998842	skin	malignant_melanoma	Substitution - Missense
c.2478C>A; p.F826L; 20:37022731-37022731	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2432A>G; p.D811G; 20:37022777-37022777	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.893A>T; p.N298I; 20:37065427-37065427	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2432A>G; p.D811G; 20:37022777-37022777	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2432A>G; p.D811G; 20:37022777-37022777	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2432A>G; p.D811G; 20:37022777-37022777	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2432A>G; p.D811G; 20:37022777-37022777	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2432A>G; p.D811G; 20:37022777-37022777	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2432A>G; p.D811G; 20:37022777-37022777	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2432A>G; p.D811G; 20:37022777-37022777	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3105C>T; p.I1035I; 20:36998861-36998861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.792_793insA; p.G265fs*8; 20:37066777-37066778	liver	carcinoma	Insertion - Frameshift
c.1702T>C; p.W568R; 20:37044154-37044154	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1468G>A; p.V490I; 20:37047190-37047190	skin; trunk	malignant_melanoma	Substitution - Missense
c.1492C>A; p.H498N; 20:37047166-37047166	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3034A>G; p.K1012E; 20:37003704-37003704	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2846A>G; p.Y949C; 20:37007436-37007436	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1492C>A; p.H498N; 20:37047166-37047166	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1876C>T; p.R626*; 20:37040180-37040180	skin	malignant_melanoma	Substitution - Nonsense
c.1876C>T; p.R626*; 20:37040180-37040180	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1876C>T; p.R626*; 20:37040180-37040180	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1680A>G; p.E560E; 20:37044176-37044176	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1309A>G; p.T437A; 20:37056200-37056200	liver	carcinoma	Substitution - Missense
c.1898G>A; p.R633Q; 20:37040158-37040158	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2668G>T; p.E890*; 20:37018333-37018333	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2668G>T; p.E890*; 20:37018333-37018333	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2753G>T; p.C918F; 20:37007529-37007529	prostate	carcinoma	Substitution - Missense
c.448C>T; p.P150S; 20:37068029-37068029	skin	malignant_melanoma	Substitution - Missense
c.482G>A; p.R161Q; 20:37067995-37067995	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3015G>T; p.K1005N; 20:37003723-37003723	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1316G>A; p.C439Y; 20:37056193-37056193	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1710C>T; p.H570H; 20:37044146-37044146	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1064T>C; p.L355P; 20:37062103-37062103	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2847C>T; p.Y949Y; 20:37007435-37007435	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2226T>C; p.N742N; 20:37032821-37032821	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1967_1973delCTAAGAG; p.A656fs*18; 20:37035439-37035445	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.492-1_492GG>AA; p.?; 20:37067297-37067298	NS	malignant_melanoma	Unknown
c.1238T>C; p.I413T; 20:37061115-37061115	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2351G>T; p.R784I; 20:37032696-37032696	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1500C>T; p.S500S; 20:37047158-37047158	skin; arm	malignant_melanoma	Substitution - coding silent
c.2099A>T; p.Q700L; 20:37035313-37035313	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2099A>T; p.Q700L; 20:37035313-37035313	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2176G>A; p.A726T; 20:37032871-37032871	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.306delT; p.F102fs*4; 20:37068171-37068171	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.409A>C; p.K137Q; 20:37068068-37068068	skin; hand	malignant_melanoma	Substitution - Missense
c.3187A>C; p.S1063R; 20:36998779-36998779	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.565C>T; p.R189W; 20:37067113-37067113	skin	malignant_melanoma	Substitution - Missense
c.565C>T; p.R189W; 20:37067113-37067113	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1212G>C; p.L404L; 20:37061141-37061141	oesophagus	carcinoma	Substitution - coding silent
c.1442G>A; p.R481Q; 20:37055578-37055578	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.753A>T; p.V251V; 20:37066817-37066817	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.335C>G; p.S112*; 20:37068142-37068142	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.335C>G; p.S112*; 20:37068142-37068142	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.1833G>A; p.L611L; 20:37040223-37040223	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1833G>A; p.L611L; 20:37040223-37040223	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3088A>T; p.K1030*; 20:36998878-36998878	pancreas	carcinoma	Substitution - Nonsense
c.2748T>C; p.P916P; 20:37007534-37007534	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.121G>A; p.D41N; 20:37095808-37095808	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1591T>C; p.F531L; 20:37047067-37047067	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.566G>A; p.R189Q; 20:37067112-37067112	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.847-1G>T; p.?; 20:37065474-37065474	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.949G>C; p.D317H; 20:37062218-37062218	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.55delG; p.E19fs*10; 20:37095874-37095874	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3158T>G; p.V1053G; 20:36998808-36998808	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2712G>T; p.M904I; 20:37018289-37018289	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.70C>A; p.L24M; 20:37095859-37095859	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.476G>A; p.R159Q; 20:37068001-37068001	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.202C>T; p.R68C; 20:37089077-37089077	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1496G>A; p.R499H; 20:37047162-37047162	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2963C>T; p.S988F; 20:37003775-37003775	skin	malignant_melanoma	Substitution - Missense
c.476G>A; p.R159Q; 20:37068001-37068001	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.922G>C; p.E308Q; 20:37062245-37062245	skin	malignant_melanoma	Substitution - Missense
c.2053C>T; p.P685S; 20:37035359-37035359	skin	malignant_melanoma	Substitution - Missense
c.2378G>A; p.R793K; 20:37032669-37032669	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2189G>T; p.G730V; 20:37032858-37032858	liver	carcinoma	Substitution - Missense
c.817C>A; p.P273T; 20:37066753-37066753	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1565T>A; p.I522N; 20:37047093-37047093	liver	carcinoma	Substitution - Missense
c.3130A>G; p.K1044E; 20:36998836-36998836	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2806A>C; p.T936P; 20:37007476-37007476	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.3130A>G; p.K1044E; 20:36998836-36998836	large_intestine; colon	carcinoma	Substitution - Missense
c.3177G>A; p.Q1059Q; 20:36998789-36998789	liver	carcinoma	Substitution - coding silent
c.1635G>T; p.E545D; 20:37044221-37044221	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1044G>T; p.Q348H; 20:37062123-37062123	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3077A>C; p.Q1026P; 20:36998889-36998889	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2355T>C; p.T785T; 20:37032692-37032692	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1083+1G>A; p.?; 20:37062083-37062083	skin; extremity	malignant_melanoma	Unknown
c.2787T>A; p.D929E; 20:37007495-37007495	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1584G>A; p.L528L; 20:37047074-37047074	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1697T>G; p.L566*; 20:37044159-37044159	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.2848G>A; p.D950N; 20:37007434-37007434	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2785G>C; p.D929H; 20:37007497-37007497	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1957G>A; p.A653T; 20:37035455-37035455	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1265A>G; p.N422S; 20:37056244-37056244	pancreas	carcinoma	Substitution - Missense
c.1265A>G; p.N422S; 20:37056244-37056244	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1499C>T; p.S500F; 20:37047159-37047159	skin; arm	malignant_melanoma	Substitution - Missense
c.847-1G>C; p.?; 20:37065474-37065474	breast	carcinoma	Unknown
c.355C>T; p.R119C; 20:37068122-37068122	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1547C>T; p.P516L; 20:37047111-37047111	skin	malignant_melanoma	Substitution - Missense
c.2502A>G; p.L834L; 20:37022707-37022707	breast	carcinoma	Substitution - coding silent
c.1045G>T; p.A349S; 20:37062122-37062122	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1045G>T; p.A349S; 20:37062122-37062122	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2871+1G>A; p.?; 20:37007410-37007410	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.349G>T; p.E117*; 20:37068128-37068128	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1904-3delT; p.?; 20:37035511-37035511	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.807C>G; p.H269Q; 20:37066763-37066763	breast	carcinoma	Substitution - Missense
c.1711G>A; p.D571N; 20:37044145-37044145	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2872-1G>C; p.?; 20:37003867-37003867	stomach	carcinoma; adenocarcinoma	Unknown
c.1711G>A; p.D571N; 20:37044145-37044145	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1915T>C; p.L639L; 20:37035497-37035497	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2893C>T; p.P965S; 20:37003845-37003845	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2510A>G; p.D837G; 20:37022699-37022699	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2879C>A; p.A960D; 20:37003859-37003859	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2847C>A; p.Y949*; 20:37007435-37007435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2987T>G; p.L996R; 20:37003751-37003751	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3136G>T; p.V1046F; 20:36998830-36998830	breast	carcinoma	Substitution - Missense
c.2280T>C; p.G760G; 20:37032767-37032767	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1811A>C; p.N604T; 20:37040245-37040245	liver	carcinoma	Substitution - Missense
c.1811A>C; p.N604T; 20:37040245-37040245	liver	carcinoma	Substitution - Missense
c.3124C>A; p.P1042T; 20:36998842-36998842	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.291-3delT; p.?; 20:37068189-37068189	NS	malignant_melanoma	Unknown
c.751G>T; p.V251L; 20:37066819-37066819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.969A>G; p.G323G; 20:37062198-37062198	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1933C>A; p.H645N; 20:37035479-37035479	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.969A>G; p.G323G; 20:37062198-37062198	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.969A>G; p.G323G; 20:37062198-37062198	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.969A>G; p.G323G; 20:37062198-37062198	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2404C>T; p.R802C; 20:37022805-37022805	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2194A>C; p.I732L; 20:37032853-37032853	breast	carcinoma	Substitution - Missense
c.1008C>A; p.F336L; 20:37062159-37062159	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3023G>T; p.G1008V; 20:37003715-37003715	skin; neck	malignant_melanoma	Substitution - Missense
c.1439C>G; p.T480R; 20:37055581-37055581	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.275G>T; p.R92L; 20:37089004-37089004	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1365C>T; p.D455D; 20:37055655-37055655	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1869G>A; p.K623K; 20:37040187-37040187	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1167A>G; p.S389S; 20:37061186-37061186	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.598C>T; p.H200Y; 20:37067080-37067080	skin	malignant_melanoma	Substitution - Missense
c.1523T>G; p.I508S; 20:37047135-37047135	breast	carcinoma	Substitution - Missense
c.1704G>C; p.W568C; 20:37044152-37044152	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1704G>A; p.W568*; 20:37044152-37044152	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1704G>C; p.W568C; 20:37044152-37044152	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.829A>C; p.K277Q; 20:37066741-37066741	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2924C>T; p.S975L; 20:37003814-37003814	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2933G>A; p.R978H; 20:37003805-37003805	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1470T>C; p.V490V; 20:37047188-37047188	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1116C>T; p.T372T; 20:37061237-37061237	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.1116C>T; p.T372T; 20:37061237-37061237	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2924C>T; p.S975L; 20:37003814-37003814	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2722G>T; p.D908Y; 20:37018279-37018279	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1779C>T; p.F593F; 20:37040277-37040277	skin	malignant_melanoma	Substitution - coding silent
c.2576G>T; p.R859I; 20:37020714-37020714	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.449C>T; p.P150L; 20:37068028-37068028	skin	malignant_melanoma	Substitution - Missense
c.1864G>T; p.V622F; 20:37040192-37040192	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2753G>C; p.C918S; 20:37007529-37007529	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2093C>T; p.P698L; 20:37035319-37035319	pancreas	carcinoma	Substitution - Missense
c.3125C>T; p.P1042L; 20:36998841-36998841	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1113G>A; p.L371L; 20:37061240-37061240	breast	carcinoma	Substitution - coding silent
c.344C>A; p.P115Q; 20:37068133-37068133	skin	malignant_melanoma	Substitution - Missense
c.1209T>G; p.G403G; 20:37061144-37061144	thyroid	other; neoplasm	Substitution - coding silent
c.2407T>C; p.L803L; 20:37022802-37022802	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1808G>C; p.G603A; 20:37040248-37040248	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3037_3038delAG; p.S1013fs*12; 20:36998928-36998929	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2222C>A; p.T741K; 20:37032825-37032825	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.170A>G; p.H57R; 20:37089109-37089109	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2550C>T; p.I850I; 20:37022659-37022659	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1865T>C; p.V622A; 20:37040191-37040191	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1865T>C; p.V622A; 20:37040191-37040191	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2324A>G; p.H775R; 20:37032723-37032723	skin	malignant_melanoma	Substitution - Missense
c.1877G>A; p.R626Q; 20:37040179-37040179	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1877G>A; p.R626Q; 20:37040179-37040179	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.221C>T; p.T74M; 20:37089058-37089058	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1413A>T; p.I471I; 20:37055607-37055607	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2782G>T; p.G928C; 20:37007500-37007500	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.967G>A; p.G323R; 20:37062200-37062200	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.967G>A; p.G323R; 20:37062200-37062200	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2044A>C; p.K682Q; 20:37035368-37035368	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.346C>T; p.Q116*; 20:37068131-37068131	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.364A>G; p.I122V; 20:37068113-37068113	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1012C>T; p.R338C; 20:37062155-37062155	skin	malignant_melanoma	Substitution - Missense
c.3022_3023GG>TT; p.G1008F; 20:37003715-37003716	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1471C>T; p.L491F; 20:37047187-37047187	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2639G>T; p.R880I; 20:37018362-37018362	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.492-3delT; p.?; 20:37067300-37067300	stomach	adenocarcinoma	Unknown
c.752T>C; p.V251A; 20:37066818-37066818	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2450G>A; p.R817Q; 20:37022759-37022759	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.752T>C; p.V251A; 20:37066818-37066818	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.158G>A; p.G53E; 20:37089121-37089121	skin	malignant_melanoma	Substitution - Missense

Mutation summary in protein domains

Top

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]