Entrez Gene

Basic Information
Gene ID	7048
Name	TGFBR2
Synonymous	transforming growth factor, beta receptor II (70/80kDa);TGFBR2;transforming growth factor, beta receptor II (70/80kDa)
Definition	TGF-beta receptor type IIB\|TGF-beta receptor type-2\|TGF-beta type II receptor\|tbetaR-II\|transforming growth factor beta receptor type IIC\|transforming growth factor, beta receptor II alpha\|transforming growth factor, beta receptor II beta\|transforming gro
Position	3p22
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 0.31.

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.1275G>T; p.M425I; 3:30674125-30674125	urinary_tract; bladder	carcinoma	Substitution - Missense
c.951delG; p.K319fs*5; 3:30672134-30672134	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1325T>C; p.F442S; 3:30674175-30674175	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.852T>A; p.Y284*; 3:30672035-30672035	pancreas	carcinoma	Substitution - Nonsense
c.852T>A; p.Y284*; 3:30672035-30672035	pancreas	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.1562G>A; p.W521*; 3:30691457-30691457	pancreas	NS	Substitution - Nonsense
c.167T>C; p.V56A; 3:30644819-30644819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.786G>C; p.K262N; 3:30671969-30671969	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.374_375delAA; p.K128fs*3; 3:30650380-30650381	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374_375delAA; p.K128fs*3; 3:30650380-30650381	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374_375delAA; p.K128fs*3; 3:30650380-30650381	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1042C>T; p.R348C; 3:30672225-30672225	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1571A>G; p.D524G; 3:30691466-30691466	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1208G>A; p.R403H; 3:30672391-30672391	skin	malignant_melanoma	Substitution - Missense
c.374_375delAA; p.K128fs*3; 3:30650380-30650381	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374_375delAA; p.K128fs*3; 3:30650380-30650381	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.374_375delAA; p.K128fs*3; 3:30650380-30650381	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.954G>A; p.G318G; 3:30672137-30672137	skin	malignant_melanoma	Substitution - coding silent
c.916C>T; p.Q306*; 3:30672099-30672099	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1554T>C; p.T518T; 3:30691449-30691449	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1282G>A; p.E428K; 3:30674132-30674132	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1066_1067insC; p.R356fs*9; 3:30672249-30672250	pancreas	NS	Insertion - Frameshift
c.1355T>C; p.L452P; 3:30674205-30674205	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1355T>C; p.L452P; 3:30674205-30674205	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1355T>C; p.L452P; 3:30674205-30674205	large_intestine; colon	carcinoma	Substitution - Missense
c.1355T>C; p.L452P; 3:30674205-30674205	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.314A>T; p.K105M; 3:30650320-30650320	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1321T>C; p.S441P; 3:30674171-30674171	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.455-4T>A; p.?; 3:30671634-30671634	stomach	carcinoma; adenocarcinoma	Unknown
c.1171C>T; p.L391L; 3:30672354-30672354	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.726G>A; p.L242L; 3:30671909-30671909	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.927G>T; p.T309T; 3:30672110-30672110	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.868G>A; p.E290K; 3:30672051-30672051	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.868G>A; p.E290K; 3:30672051-30672051	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1582C>T; p.R528C; 3:30691477-30691477	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1582C>T; p.R528C; 3:30691477-30691477	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1582C>T; p.R528C; 3:30691477-30691477	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1582C>T; p.R528C; 3:30691477-30691477	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.382_383delAA; p.K128fs*3; 3:30650388-30650389	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.382_383delAA; p.K128fs*3; 3:30650388-30650389	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1593C>A; p.A531A; 3:30691488-30691488	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1277C>T; p.A426V; 3:30674127-30674127	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1361T>C; p.L454P; 3:30674211-30674211	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1361T>C; p.L454P; 3:30674211-30674211	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.636C>T; p.F212F; 3:30671819-30671819	skin	malignant_melanoma	Substitution - coding silent
c.373_384ins?; p.?; 3:30650379-30650390	skin; leg	malignant_melanoma; superficial_spreading	Unknown
c.1234G>C; p.D412H; 3:30672417-30672417	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1552A>T; p.T518S; 3:30691447-30691447	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1343A>G; p.Y448C; 3:30674193-30674193	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1364G>C; p.W455S; 3:30674214-30674214	pancreas	carcinoma	Substitution - Missense
c.1364G>C; p.W455S; 3:30674214-30674214	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1484G>C; p.R495P; 3:30688471-30688471	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1450_1460del11; p.V484fs*28; 3:30688437-30688447	pancreas	NS	Deletion - Frameshift
c.1408T>G; p.Y470D; 3:30688395-30688395	pancreas	carcinoma	Substitution - Missense
c.1434G>A; p.V478V; 3:30688421-30688421	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1143G>C; p.K381N; 3:30672326-30672326	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.982C>T; p.H328Y; 3:30672165-30672165	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.982C>T; p.H328Y; 3:30672165-30672165	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.982C>T; p.H328Y; 3:30672165-30672165	skin	malignant_melanoma	Substitution - Missense
c.1337A>T; p.D446V; 3:30674187-30674187	pancreas	carcinoma	Substitution - Missense
c.1337A>T; p.D446V; 3:30674187-30674187	pancreas	carcinoma	Substitution - Missense
c.1337A>T; p.D446V; 3:30674187-30674187	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1193T>C; p.F398S; 3:30672376-30672376	pancreas	carcinoma	Substitution - Missense
c.219C>T; p.I73I; 3:30644871-30644871	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.829A>G; p.K277E; 3:30672012-30672012	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.219C>T; p.I73I; 3:30644871-30644871	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1269_1271delATA; p.R423_Y424>S; 3:30674119-30674121	stomach	carcinoma; diffuse_adenocarcinoma	Complex - deletion inframe
c.696_698delCAA; p.N234delN; 3:30671879-30671881	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.1561T>C; p.W521R; 3:30691456-30691456	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.219C>T; p.I73I; 3:30644871-30644871	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1469A>G; p.N490S; 3:30688456-30688456	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1469A>G; p.N490S; 3:30688456-30688456	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1469A>G; p.N490S; 3:30688456-30688456	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1609C>T; p.R537C; 3:30691504-30691504	pancreas	NS	Substitution - Missense
c.277G>A; p.E93K; 3:30650283-30650283	oesophagus	carcinoma	Substitution - Missense
c.1067G>A; p.R356Q; 3:30672250-30672250	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.102C>T; p.N34N; 3:30644754-30644754	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.620G>A; p.R207Q; 3:30671803-30671803	skin	malignant_melanoma	Substitution - Missense
c.529G>T; p.G177*; 3:30671712-30671712	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.670C>T; p.R224C; 3:30671853-30671853	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1178G>T; p.C393F; 3:30672361-30672361	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1178G>T; p.C393F; 3:30672361-30672361	pancreas	NS	Substitution - Missense
c.181T>C; p.C61R; 3:30644833-30644833	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.181T>C; p.C61R; 3:30644833-30644833	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1379G>T; p.R460L; 3:30674229-30674229	pancreas	carcinoma	Substitution - Missense
c.1373C>A; p.T458K; 3:30674223-30674223	stomach	carcinoma	Substitution - Missense
c.984C>T; p.H328H; 3:30672167-30672167	breast	carcinoma	Substitution - coding silent
c.1436G>A; p.R479Q; 3:30688423-30688423	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1133G>T; p.R378M; 3:30672316-30672316	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.640G>T; p.E214*; 3:30671823-30671823	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.831G>T; p.K277N; 3:30672014-30672014	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.57T>C; p.R19R; 3:30606940-30606940	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1336G>A; p.D446N; 3:30674186-30674186	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1336G>A; p.D446N; 3:30674186-30674186	pancreas	carcinoma	Substitution - Missense
c.1336G>A; p.D446N; 3:30674186-30674186	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1435C>T; p.R479W; 3:30688422-30688422	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1336G>A; p.D446N; 3:30674186-30674186	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1435C>T; p.R479W; 3:30688422-30688422	central_nervous_system; brain	glioma	Substitution - Missense
c.1336G>A; p.D446N; 3:30674186-30674186	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1336G>A; p.D446N; 3:30674186-30674186	pancreas	carcinoma	Substitution - Missense
c.1336G>A; p.D446N; 3:30674186-30674186	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1336G>A; p.D446N; 3:30674186-30674186	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1336G>A; p.D446N; 3:30674186-30674186	pancreas	carcinoma	Substitution - Missense
c.374_375insA; p.P129fs*3; 3:30650380-30650381	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.374_375insA; p.P129fs*3; 3:30650380-30650381	oesophagus	carcinoma; adenocarcinoma	Insertion - Frameshift
c.374_375insA; p.P129fs*3; 3:30650380-30650381	stomach	carcinoma; diffuse_adenocarcinoma	Insertion - Frameshift
c.786G>A; p.K262K; 3:30671969-30671969	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.789G>A; p.L263L; 3:30671972-30671972	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.884C>G; p.S295*; 3:30672067-30672067	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1453G>A; p.E485K; 3:30688440-30688440	breast	carcinoma	Substitution - Missense
c.715A>G; p.T239A; 3:30671898-30671898	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.182G>A; p.C61Y; 3:30644834-30644834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.283A>T; p.I95L; 3:30650289-30650289	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.915C>T; p.L305L; 3:30672098-30672098	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1483C>T; p.R495*; 3:30688470-30688470	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1483C>T; p.R495*; 3:30688470-30688470	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1483C>T; p.R495*; 3:30688470-30688470	pancreas	carcinoma	Substitution - Nonsense
c.1483C>T; p.R495*; 3:30688470-30688470	pancreas	carcinoma	Substitution - Nonsense
c.1483C>T; p.R495*; 3:30688470-30688470	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1483C>T; p.R495*; 3:30688470-30688470	pancreas	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.1483C>T; p.R495*; 3:30688470-30688470	pancreas	carcinoma	Substitution - Nonsense
c.1685C>T; p.S562F; 3:30691580-30691580	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1483C>T; p.R495*; 3:30688470-30688470	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1194T>C; p.F398F; 3:30672377-30672377	pancreas	carcinoma	Substitution - coding silent
c.189C>T; p.N63N; 3:30644841-30644841	skin	malignant_melanoma	Substitution - coding silent
c.189C>T; p.N63N; 3:30644841-30644841	skin	malignant_melanoma	Substitution - coding silent
c.1202C>T; p.S401F; 3:30672385-30672385	skin	malignant_melanoma	Substitution - Missense
c.1569C>T; p.H523H; 3:30691464-30691464	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.183T>C; p.C61C; 3:30644835-30644835	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.183T>C; p.C61C; 3:30644835-30644835	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.771G>C; p.E257D; 3:30671954-30671954	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.217A>G; p.I73V; 3:30644869-30644869	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1573C>T; p.P525S; 3:30691468-30691468	skin	malignant_melanoma	Substitution - Missense
c.1481delA; p.D494fs*24; 3:30688468-30688468	pancreas	NS	Deletion - Frameshift
c.502A>G; p.T168A; 3:30671685-30671685	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1563G>A; p.W521*; 3:30691458-30691458	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.428G>A; p.C143Y; 3:30650434-30650434	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.377A>C; p.K126T; 3:30650383-30650383	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1563G>A; p.W521*; 3:30691458-30691458	breast	carcinoma	Substitution - Nonsense
c.1082T>A; p.L361H; 3:30672265-30672265	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.1554T>A; p.T518T; 3:30691449-30691449	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1554T>A; p.T518T; 3:30691449-30691449	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1484G>A; p.R495Q; 3:30688471-30688471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.743C>T; p.T248I; 3:30671926-30671926	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1614C>T; p.F538F; 3:30691509-30691509	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1610G>A; p.R537H; 3:30691505-30691505	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1444C>A; p.P482T; 3:30688431-30688431	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1121C>A; p.P374H; 3:30672304-30672304	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1583G>A; p.R528H; 3:30691478-30691478	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1540T>C; p.C514R; 3:30691435-30691435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.717A>G; p.T239T; 3:30671900-30671900	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1583G>A; p.R528H; 3:30691478-30691478	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1583G>A; p.R528H; 3:30691478-30691478	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1583G>A; p.R528H; 3:30691478-30691478	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.665A>G; p.D222G; 3:30671848-30671848	thyroid	carcinoma	Substitution - Missense
c.1583G>A; p.R528H; 3:30691478-30691478	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1583G>A; p.R528H; 3:30691478-30691478	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.315G>A; p.K105K; 3:30650321-30650321	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1043G>A; p.R348H; 3:30672226-30672226	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1049T>C; p.L350P; 3:30672232-30672232	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1247_1248insG; p.S416fs*25; 3:30672430-30672431	pancreas	NS	Insertion - Frameshift
c.1066C>T; p.R356W; 3:30672249-30672249	skin	malignant_melanoma	Substitution - Missense
c.551T>A; p.I184N; 3:30671734-30671734	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1058C>T; p.S353F; 3:30672241-30672241	pancreas	carcinoma	Substitution - Missense
c.1402A>C; p.K468Q; 3:30688389-30688389	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.927G>A; p.T309T; 3:30672110-30672110	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1404A>G; p.K468K; 3:30688391-30688391	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.775T>G; p.Y259D; 3:30671958-30671958	pancreas	carcinoma	Substitution - Missense
c.285A>G; p.I95M; 3:30650291-30650291	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.761G>A; p.R254H; 3:30671944-30671944	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1468A>G; p.N490D; 3:30688455-30688455	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1211T>G; p.L404R; 3:30672394-30672394	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.784A>G; p.K262E; 3:30671967-30671967	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.373_374insA; p.P129fs*3; 3:30650379-30650380	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.373_374insA; p.P129fs*3; 3:30650379-30650380	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.373_374insA; p.P129fs*3; 3:30650379-30650380	pancreas	carcinoma; ductal_carcinoma	Insertion - Frameshift
c.373_374insA; p.P129fs*3; 3:30650379-30650380	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1489C>T; p.R497*; 3:30688476-30688476	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1489C>T; p.R497*; 3:30688476-30688476	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1489C>T; p.R497*; 3:30688476-30688476	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1438G>T; p.E480*; 3:30688425-30688425	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.1489C>T; p.R497*; 3:30688476-30688476	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Nonsense
c.1489C>T; p.R497*; 3:30688476-30688476	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1583G>T; p.R528L; 3:30691478-30691478	pancreas	carcinoma	Substitution - Missense
c.1489C>T; p.R497*; 3:30688476-30688476	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1489C>T; p.R497*; 3:30688476-30688476	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1489C>T; p.R497*; 3:30688476-30688476	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.598A>G; p.T200A; 3:30671781-30671781	breast	carcinoma	Substitution - Missense
c.1585C>T; p.L529F; 3:30691480-30691480	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1570G>T; p.D524Y; 3:30691465-30691465	pancreas	NS	Substitution - Missense
c.1585C>T; p.L529F; 3:30691480-30691480	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.374delA; p.K128fs*35; 3:30650380-30650380	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.373G>A; p.E125K; 3:30650379-30650379	skin	malignant_melanoma	Substitution - Missense
c.374delA; p.K128fs*35; 3:30650380-30650380	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	pleura	pulmonary_blastoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.374delA; p.K128fs*35; 3:30650380-30650380	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1570G>A; p.D524N; 3:30691465-30691465	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.751G>A; p.G251R; 3:30671934-30671934	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1570G>A; p.D524N; 3:30691465-30691465	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1570G>A; p.D524N; 3:30691465-30691465	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.229T>C; p.C77R; 3:30644881-30644881	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1151A>G; p.N384S; 3:30672334-30672334	ovary	carcinoma	Substitution - Missense
c.230G>C; p.C77S; 3:30644882-30644882	pancreas	carcinoma	Substitution - Missense
c.1205T>C; p.L402P; 3:30672388-30672388	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.400T>G; p.F134V; 3:30650406-30650406	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1403A>G; p.K468R; 3:30688390-30688390	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1501C>T; p.P501S; 3:30688488-30688488	skin	malignant_melanoma	Substitution - Missense
c.1196G>C; p.G399A; 3:30672379-30672379	kidney	other; neoplasm	Substitution - Missense
c.1574C>A; p.P525Q; 3:30691469-30691469	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.793C>T; p.Q265*; 3:30671976-30671976	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1555G>A; p.E519K; 3:30691450-30691450	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1563G>T; p.W521C; 3:30691458-30691458	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1181G>T; p.C394F; 3:30672364-30672364	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1017G>A; p.R339R; 3:30672200-30672200	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.308A>G; p.D103G; 3:30650314-30650314	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.308A>G; p.D103G; 3:30650314-30650314	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.968T>C; p.L323P; 3:30672151-30672151	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1231G>T; p.D411Y; 3:30672414-30672414	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.222C>A; p.T74T; 3:30644874-30644874	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.968T>C; p.L323P; 3:30672151-30672151	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1254+2T>G; p.?; 3:30672439-30672439	stomach	carcinoma; adenocarcinoma	Unknown
c.1081C>T; p.L361F; 3:30672264-30672264	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.303C>T; p.C101C; 3:30650309-30650309	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.949T>C; p.L317L; 3:30672132-30672132	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.949T>C; p.L317L; 3:30672132-30672132	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.212G>A; p.C71Y; 3:30644864-30644864	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1322C>T; p.S441F; 3:30674172-30674172	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1659_1660GG>TT; p.S553>?; 3:30691554-30691555	lung	carcinoma; adenocarcinoma	Complex
c.1318G>T; p.E440*; 3:30674168-30674168	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.307G>A; p.D103N; 3:30650313-30650313	breast	carcinoma	Substitution - Missense
c.1356G>A; p.L452L; 3:30674206-30674206	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent

Mutation summary in protein domains

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

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]