lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	3084
Symbol	NRG1
Synonymous	ARIA\|GGF\|GGF2\|HGL\|HRG\|HRG1\|HRGA\|MST131\|MSTP131\|NDF\|NRG1-IT2\|SMDF
Full name	neuregulin 1
Gene description	glial growth factor\|heregulin, alpha (45kD, ERBB2 p185-activator)\|neu differentiation factor\|pro-NRG1\|pro-neuregulin-1, membrane-bound isoform\|sensory and motor neuron derived factor
Cytoband	8p12
Gene type	protein-coding
Synonymous	MIM:142445; HGNC:HGNC:7997; Ensembl:ENSG00000157168; HPRD:00802; Vega:OTTHUMG00000163918

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.113G>A; p.R38Q; 8:32595840-32595840	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.464G>T; p.R155I; 8:32616847-32616847	breast	carcinoma	Substitution - Missense
c.1797C>T; p.P599P; 8:32764261-32764261	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.568T>G; p.C190G; 8:32728014-32728014	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.568T>G; p.C190G; 8:32728014-32728014	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1365G>T; p.S455S; 8:32763829-32763829	breast	carcinoma	Substitution - coding silent
c.644A>T; p.E215V; 8:32742686-32742686	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1141G>A; p.V381I; 8:32760264-32760264	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1141G>A; p.V381I; 8:32760264-32760264	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.647T>G; p.F216C; 8:32742689-32742689	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.681C>T; p.A227A; 8:32742723-32742723	prostate	adenoma	Substitution - coding silent
c.1798C>T; p.L600L; 8:32764262-32764262	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1697A>C; p.E566A; 8:32764161-32764161	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.428C>T; p.T143I; 8:32614541-32614541	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1612C>T; p.P538S; 8:32764076-32764076	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1872G>A; p.S624S; 8:32764336-32764336	skin	malignant_melanoma	Substitution - coding silent
c.1528C>G; p.P510A; 8:32763992-32763992	thyroid	other; neoplasm	Substitution - Missense
c.932T>C; p.V311A; 8:32756516-32756516	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1111G>A; p.E371K; 8:32760234-32760234	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.429T>C; p.T143T; 8:32614542-32614542	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1465C>T; p.P489S; 8:32763929-32763929	skin	malignant_melanoma	Substitution - Missense
c.1424C>T; p.P475L; 8:32763888-32763888	skin	malignant_melanoma	Substitution - Missense
c.618G>A; p.S206S; 8:32728064-32728064	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.634T>C; p.C212R; 8:32742676-32742676	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.951C>T; p.Y317Y; 8:32759311-32759311	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.951C>T; p.Y317Y; 8:32759311-32759311	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.951C>T; p.Y317Y; 8:32759311-32759311	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1771A>G; p.T591A; 8:32764235-32764235	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.101-1G>T; p.?; 8:32595827-32595827	large_intestine	carcinoma; adenocarcinoma	Unknown
c.871C>T; p.R291*; 8:32756455-32756455	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1126A>C; p.I376L; 8:32760249-32760249	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.411T>G; p.T137T; 8:32614524-32614524	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1799T>C; p.L600P; 8:32764263-32764263	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1190T>A; p.L397H; 8:32760313-32760313	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.583G>A; p.E195K; 8:32728029-32728029	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.606T>C; p.L202L; 8:32728052-32728052	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.168G>A; p.R56R; 8:32595895-32595895	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.391G>A; p.E131K; 8:32605674-32605674	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.691+2T>A; p.?; 8:32742735-32742735	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1593A>C; p.E531D; 8:32764057-32764057	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1769A>G; p.D590G; 8:32764233-32764233	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.916C>A; p.P306T; 8:32756500-32756500	pancreas	carcinoma	Substitution - Missense
c.1128C>T; p.I376I; 8:32760251-32760251	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.916C>A; p.P306T; 8:32756500-32756500	skin	malignant_melanoma	Substitution - Missense
c.172G>A; p.E58K; 8:32595899-32595899	skin	malignant_melanoma	Substitution - Missense
c.341T>C; p.V114A; 8:32605624-32605624	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1381G>A; p.V461M; 8:32763845-32763845	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1067C>T; p.P356L; 8:32759427-32759427	skin	malignant_melanoma	Substitution - Missense
c.1381G>A; p.V461M; 8:32763845-32763845	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.625T>A; p.L209M; 8:32728071-32728071	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.216G>T; p.K72N; 8:32595943-32595943	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1140C>T; p.S380S; 8:32760263-32760263	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1161C>T; p.S387S; 8:32760284-32760284	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.400G>A; p.E134K; 8:32605683-32605683	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1415C>T; p.A472V; 8:32763879-32763879	pancreas	carcinoma	Substitution - Missense
c.1831C>T; p.R611C; 8:32764295-32764295	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1415C>T; p.A472V; 8:32763879-32763879	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1533G>A; p.A511A; 8:32763997-32763997	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.400G>A; p.E134K; 8:32605683-32605683	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1533G>A; p.A511A; 8:32763997-32763997	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1332C>T; p.F444F; 8:32763796-32763796	skin	malignant_melanoma	Substitution - coding silent
c.482delA; p.G162fs*19; 8:32616865-32616865	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1899G>T; p.L633L; 8:32764363-32764363	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.644A>C; p.E215A; 8:32742686-32742686	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1866C>A; p.R622R; 8:32764330-32764330	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1652G>A; p.R551Q; 8:32764116-32764116	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1484A>C; p.K495T; 8:32763948-32763948	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.325G>C; p.E109Q; 8:32605608-32605608	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1246A>G; p.T416A; 8:32760369-32760369	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1182A>G; p.R394R; 8:32760305-32760305	pancreas	carcinoma	Substitution - coding silent
c.1308G>A; p.P436P; 8:32763772-32763772	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1474C>T; p.R492W; 8:32763938-32763938	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.603C>T; p.D201D; 8:32728049-32728049	skin	malignant_melanoma	Substitution - coding silent
c.1365G>A; p.S455S; 8:32763829-32763829	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1882G>A; p.E628K; 8:32764346-32764346	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1768G>T; p.D590Y; 8:32764232-32764232	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.182C>A; p.S61Y; 8:32595909-32595909	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1532C>T; p.A511V; 8:32763996-32763996	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.523G>A; p.G175R; 8:32727969-32727969	skin	malignant_melanoma	Substitution - Missense
c.523G>A; p.G175R; 8:32727969-32727969	skin	malignant_melanoma	Substitution - Missense
c.1795C>G; p.P599A; 8:32764259-32764259	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.140C>T; p.S47L; 8:32595867-32595867	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.872G>A; p.R291Q; 8:32756456-32756456	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.384C>A; p.T128T; 8:32605667-32605667	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1600C>A; p.Q534K; 8:32764064-32764064	urinary_tract; bladder	carcinoma	Substitution - Missense
c.769G>A; p.A257T; 8:32754425-32754425	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1764_1765insG; p.E589fs*17; 8:32764228-32764229	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.710T>C; p.F237S; 8:32749579-32749579	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1811T>G; p.L604R; 8:32764275-32764275	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.574A>C; p.N192H; 8:32728020-32728020	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.850C>T; p.R284W; 8:32756434-32756434	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.804C>T; p.A268A; 8:32754460-32754460	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - coding silent
c.804C>T; p.A268A; 8:32754460-32754460	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - coding silent
c.850C>T; p.R284W; 8:32756434-32756434	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1327G>A; p.D443N; 8:32763791-32763791	skin	malignant_melanoma	Substitution - Missense
c.266delA; p.K91fs*24; 8:32595993-32595993	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.266delA; p.K91fs*24; 8:32595993-32595993	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.266delA; p.K91fs*24; 8:32595993-32595993	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.266delA; p.K91fs*24; 8:32595993-32595993	stomach	adenocarcinoma	Deletion - Frameshift
c.266delA; p.K91fs*24; 8:32595993-32595993	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.266delA; p.K91fs*24; 8:32595993-32595993	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.266delA; p.K91fs*24; 8:32595993-32595993	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.266delA; p.K91fs*24; 8:32595993-32595993	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.266delA; p.K91fs*24; 8:32595993-32595993	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.266delA; p.K91fs*24; 8:32595993-32595993	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.266delA; p.K91fs*24; 8:32595993-32595993	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1456G>T; p.V486L; 8:32763920-32763920	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1456G>T; p.V486L; 8:32763920-32763920	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1925C>A; p.P642H; 8:32764389-32764389	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1595C>T; p.T532M; 8:32764059-32764059	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.494C>A; p.T165N; 8:32616877-32616877	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1800G>A; p.L600L; 8:32764264-32764264	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1595C>T; p.T532M; 8:32764059-32764059	central_nervous_system; brain	glioma	Substitution - Missense
c.1124T>C; p.V375A; 8:32760247-32760247	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1421G>T; p.S474I; 8:32763885-32763885	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.306A>G; p.A102A; 8:32605589-32605589	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1502A>G; p.Q501R; 8:32763966-32763966	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1456G>A; p.V486M; 8:32763920-32763920	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1456G>A; p.V486M; 8:32763920-32763920	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1577A>T; p.E526V; 8:32764041-32764041	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia	Substitution - Missense
c.1243G>T; p.E415*; 8:32760366-32760366	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.991A>G; p.R331G; 8:32759351-32759351	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1243G>T; p.E415*; 8:32760366-32760366	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.952G>A; p.V318I; 8:32759312-32759312	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1454T>G; p.L485R; 8:32763918-32763918	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1252G>A; p.D418N; 8:32760375-32760375	skin	malignant_melanoma	Substitution - Missense
c.162C>T; p.V54V; 8:32595889-32595889	skin	malignant_melanoma	Substitution - coding silent
c.863G>A; p.R288Q; 8:32756447-32756447	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1661G>T; p.R554I; 8:32764125-32764125	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.863G>A; p.R288Q; 8:32756447-32756447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1355C>T; p.S452L; 8:32763819-32763819	skin	malignant_melanoma	Substitution - Missense
c.819G>A; p.K273K; 8:32756403-32756403	skin	malignant_melanoma	Substitution - coding silent
c.548C>T; p.A183V; 8:32727994-32727994	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.548C>T; p.A183V; 8:32727994-32727994	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1256C>T; p.S419F; 8:32760379-32760379	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1256C>T; p.S419F; 8:32760379-32760379	skin	malignant_melanoma	Substitution - Missense
c.26G>A; p.G9D; 8:32548752-32548752	liver	carcinoma	Substitution - Missense
c.405C>T; p.I135I; 8:32614518-32614518	skin	malignant_melanoma	Substitution - coding silent
c.1190T>C; p.L397P; 8:32760313-32760313	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.26G>A; p.G9D; 8:32548752-32548752	liver	carcinoma	Substitution - Missense
c.1190T>C; p.L397P; 8:32760313-32760313	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1398G>T; p.V466V; 8:32763862-32763862	prostate	carcinoma	Substitution - coding silent
c.750C>T; p.T250T; 8:32754406-32754406	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1180A>C; p.R394R; 8:32760303-32760303	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1076delG; p.S359fs*17; 8:32759436-32759436	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - Frameshift
c.1775C>T; p.P592L; 8:32764239-32764239	skin	malignant_melanoma	Substitution - Missense
c.764G>A; p.C255Y; 8:32754420-32754420	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1639G>A; p.A547T; 8:32764103-32764103	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1639G>A; p.A547T; 8:32764103-32764103	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.757G>A; p.G253S; 8:32754413-32754413	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.757G>A; p.G253S; 8:32754413-32754413	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1299G>A; p.M433I; 8:32763763-32763763	skin	malignant_melanoma	Substitution - Missense
c.768C>T; p.I256I; 8:32754424-32754424	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1879G>T; p.E627*; 8:32764343-32764343	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.829A>G; p.K277E; 8:32756413-32756413	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1475G>A; p.R492Q; 8:32763939-32763939	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1819A>T; p.T607S; 8:32764283-32764283	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1371G>A; p.M457I; 8:32763835-32763835	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.455C>A; p.S152Y; 8:32616838-32616838	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1190T>G; p.L397R; 8:32760313-32760313	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1404G>A; p.M468I; 8:32763868-32763868	pancreas	carcinoma	Substitution - Missense
c.1808G>C; p.S603T; 8:32764272-32764272	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.399C>T; p.N133N; 8:32605682-32605682	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.279G>A; p.G93G; 8:32605562-32605562	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.997G>A; p.A333T; 8:32759357-32759357	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.303A>G; p.K101K; 8:32605586-32605586	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1466C>A; p.P489Q; 8:32763930-32763930	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.719C>T; p.A240V; 8:32754375-32754375	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.719C>T; p.A240V; 8:32754375-32754375	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1531G>A; p.A511T; 8:32763995-32763995	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1416G>A; p.A472A; 8:32763880-32763880	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1651C>A; p.R551R; 8:32764115-32764115	liver	carcinoma	Substitution - coding silent
c.1509C>T; p.F503F; 8:32763973-32763973	skin	malignant_melanoma	Substitution - coding silent
c.52C>A; p.R18R; 8:32548778-32548778	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1635A>G; p.K545K; 8:32764099-32764099	liver	carcinoma	Substitution - coding silent
c.1514C>T; p.S505F; 8:32763978-32763978	skin	malignant_melanoma	Substitution - Missense
c.766A>G; p.I256V; 8:32754422-32754422	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.992G>C; p.R331T; 8:32759352-32759352	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.226G>A; p.E76K; 8:32595953-32595953	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1556C>T; p.A519V; 8:32764020-32764020	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1254T>G; p.D418E; 8:32760377-32760377	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.691+4C>T; p.?; 8:32742737-32742737	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1160G>A; p.S387N; 8:32760283-32760283	skin	malignant_melanoma	Substitution - Missense
c.1486T>A; p.F496I; 8:32763950-32763950	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.677T>C; p.M226T; 8:32742719-32742719	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.293G>A; p.R98H; 8:32605576-32605576	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1616C>G; p.A539G; 8:32764080-32764080	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1079G>A; p.W360*; 8:32760202-32760202	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.601G>C; p.D201H; 8:32728047-32728047	ovary	other; neoplasm	Substitution - Missense
c.1148A>G; p.N383S; 8:32760271-32760271	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.1552C>T; p.P518S; 8:32764016-32764016	skin	malignant_melanoma	Substitution - Missense
c.242A>G; p.N81S; 8:32595969-32595969	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1271C>T; p.P424L; 8:32760394-32760394	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1552C>T; p.P518S; 8:32764016-32764016	skin	malignant_melanoma	Substitution - Missense
c.1737G>A; p.E579E; 8:32764201-32764201	breast	carcinoma	Substitution - coding silent
c.1139C>T; p.S380F; 8:32760262-32760262	skin	malignant_melanoma	Substitution - Missense
c.1479G>A; p.E493E; 8:32763943-32763943	skin	malignant_melanoma	Substitution - coding silent
c.290T>G; p.L97R; 8:32605573-32605573	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1801G>T; p.A601S; 8:32764265-32764265	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1596G>T; p.T532T; 8:32764060-32764060	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1187G>A; p.R396H; 8:32760310-32760310	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.845G>A; p.R282H; 8:32756429-32756429	breast	carcinoma	Substitution - Missense
c.845G>A; p.R282H; 8:32756429-32756429	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1444C>A; p.P482T; 8:32763908-32763908	pancreas	carcinoma	Substitution - Missense
c.818A>G; p.K273R; 8:32754474-32754474	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.969C>G; p.I323M; 8:32759329-32759329	urinary_tract; bladder	carcinoma	Substitution - Missense
c.689A>G; p.Y230C; 8:32742731-32742731	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.904C>T; p.H302Y; 8:32756488-32756488	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1596G>A; p.T532T; 8:32764060-32764060	skin	malignant_melanoma	Substitution - coding silent
c.126G>A; p.M42I; 8:32595853-32595853	skin	malignant_melanoma	Substitution - Missense
c.1307C>T; p.P436L; 8:32763771-32763771	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.995A>T; p.E332V; 8:32759355-32759355	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1651C>T; p.R551W; 8:32764115-32764115	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1862G>T; p.G621V; 8:32764326-32764326	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1358C>A; p.P453H; 8:32763822-32763822	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.236G>A; p.R79Q; 8:32595963-32595963	skin	malignant_melanoma	Substitution - Missense
c.236G>A; p.R79Q; 8:32595963-32595963	skin	malignant_melanoma	Substitution - Missense
c.421G>T; p.A141S; 8:32614534-32614534	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.447T>G; p.S149S; 8:32614560-32614560	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.447T>G; p.S149S; 8:32614560-32614560	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1397T>C; p.V466A; 8:32763861-32763861	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1220A>C; p.N407T; 8:32760343-32760343	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1566G>C; p.L522F; 8:32764030-32764030	pancreas	carcinoma	Substitution - Missense
c.1566G>C; p.L522F; 8:32764030-32764030	pancreas	carcinoma	Substitution - Missense
c.112C>T; p.R38*; 8:32595839-32595839	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1364C>T; p.S455L; 8:32763828-32763828	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.289C>A; p.L97I; 8:32605572-32605572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.702G>A; p.G234G; 8:32749571-32749571	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.783C>A; p.V261V; 8:32754439-32754439	pancreas	carcinoma	Substitution - coding silent
c.1188T>G; p.R396R; 8:32760311-32760311	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.673G>A; p.V225I; 8:32742715-32742715	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.673G>A; p.V225I; 8:32742715-32742715	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.512C>T; p.T171I; 8:32727958-32727958	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1667A>C; p.K556T; 8:32764131-32764131	skin	malignant_melanoma	Substitution - Missense
c.1077-2A>T; p.?; 8:32760198-32760198	lung	carcinoma; squamous_cell_carcinoma	Unknown

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation