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	50506
Symbol	DUOX2
Synonymous	LNOX2\|NOXEF2\|P138-TOX\|TDH6\|THOX2
Full name	dual oxidase 2
Gene description	NADH/NADPH thyroid oxidase p138-tox\|NADPH oxidase/peroxidase DUOX2\|NADPH thyroid oxidase 2\|dual oxidase-like domains 2\|flavoprotein NADPH oxidase\|large NOX 2\|long NOX 2\|nicotinamide adenine dinucleotide phosphate oxidase\|p138 thyroid oxidase\|thyroid oxida
Cytoband	15q15.3
Gene type	protein-coding
Synonymous	MIM:606759; HGNC:HGNC:13273; Ensembl:ENSG00000140279; HPRD:05997; Vega:OTTHUMG00000131355

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2477C>T; p.S826F; 15:45104223-45104223	skin	malignant_melanoma	Substitution - Missense
c.2477C>T; p.S826F; 15:45104223-45104223	skin	malignant_melanoma	Substitution - Missense
c.949C>A; p.R317S; 15:45110519-45110519	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2773C>T; p.H925Y; 15:45101871-45101871	skin	malignant_melanoma	Substitution - Missense
c.4087C>T; p.L1363F; 15:45095589-45095589	skin; arm	malignant_melanoma	Substitution - Missense
c.2761T>C; p.W921R; 15:45101883-45101883	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3251G>A; p.R1084Q; 15:45099826-45099826	skin	malignant_melanoma	Substitution - Missense
c.4465C>T; p.H1489Y; 15:45094622-45094622	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4485C>T; p.F1495F; 15:45094602-45094602	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1837C>T; p.L613L; 15:45106636-45106636	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3251G>A; p.R1084Q; 15:45099826-45099826	skin	malignant_melanoma	Substitution - Missense
c.4536C>T; p.I1512I; 15:45094261-45094261	skin	malignant_melanoma	Substitution - coding silent
c.4485C>T; p.F1495F; 15:45094602-45094602	bone; sternum	chondrosarcoma	Substitution - coding silent
c.4485C>T; p.F1495F; 15:45094602-45094602	skin	malignant_melanoma	Substitution - coding silent
c.2970G>A; p.L990L; 15:45100790-45100790	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1253G>A; p.G418D; 15:45108934-45108934	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4375G>A; p.D1459N; 15:45094956-45094956	skin	malignant_melanoma	Substitution - Missense
c.245G>C; p.R82P; 15:45112634-45112634	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.900G>A; p.E300E; 15:45110693-45110693	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2985G>C; p.L995L; 15:45100775-45100775	breast	carcinoma	Substitution - coding silent
c.4226T>G; p.M1409R; 15:45095450-45095450	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2725C>T; p.R909W; 15:45101919-45101919	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3498C>T; p.N1166N; 15:45099400-45099400	liver	carcinoma	Substitution - coding silent
c.2564C>T; p.S855F; 15:45104050-45104050	skin	malignant_melanoma	Substitution - Missense
c.1635C>T; p.V545V; 15:45107403-45107403	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3498C>T; p.N1166N; 15:45099400-45099400	liver	carcinoma	Substitution - coding silent
c.1800C>T; p.I600I; 15:45106863-45106863	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4528C>T; p.R1510C; 15:45094269-45094269	stomach	adenocarcinoma	Substitution - Missense
c.4638G>T; p.E1546D; 15:45094159-45094159	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4191A>C; p.K1397N; 15:45095485-45095485	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3834G>A; p.E1278E; 15:45097251-45097251	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3366C>A; p.A1122A; 15:45099711-45099711	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3062G>A; p.R1021Q; 15:45100172-45100172	skin	malignant_melanoma	Substitution - Missense
c.1936G>A; p.G646R; 15:45106537-45106537	skin	malignant_melanoma	Substitution - Missense
c.176G>T; p.R59L; 15:45112703-45112703	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1874G>A; p.R625Q; 15:45106599-45106599	central_nervous_system; brain	glioma	Substitution - Missense
c.1107C>T; p.V369V; 15:45109914-45109914	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2924C>T; p.S975F; 15:45100836-45100836	skin	malignant_melanoma	Substitution - Missense
c.3566G>A; p.G1189D; 15:45097741-45097741	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1396_1397insC; p.Q466fs*50; 15:45108790-45108791	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2352G>A; p.Q784Q; 15:45104348-45104348	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.63T>C; p.G21G; 15:45113349-45113349	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3669C>T; p.H1223H; 15:45097638-45097638	skin	malignant_melanoma	Substitution - coding silent
c.3961A>G; p.T1321A; 15:45095947-45095947	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4087C>A; p.L1363I; 15:45095589-45095589	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.893T>C; p.V298A; 15:45110700-45110700	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1911C>T; p.S637S; 15:45106562-45106562	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2763G>T; p.W921C; 15:45101881-45101881	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3102C>T; p.F1034F; 15:45100132-45100132	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4395A>G; p.L1465L; 15:45094936-45094936	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.93G>A; p.L31L; 15:45113054-45113054	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.3102C>T; p.F1034F; 15:45100132-45100132	skin	malignant_melanoma	Substitution - coding silent
c.505C>T; p.R169W; 15:45111776-45111776	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.65C>A; p.P22Q; 15:45113347-45113347	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1982C>T; p.P661L; 15:45106291-45106291	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.65C>A; p.P22Q; 15:45113347-45113347	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1358C>T; p.P453L; 15:45108829-45108829	skin	malignant_melanoma	Substitution - Missense
c.1049G>T; p.S350I; 15:45109972-45109972	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.966C>T; p.P322P; 15:45110502-45110502	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1621C>T; p.R541W; 15:45107417-45107417	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3308G>A; p.R1103H; 15:45099769-45099769	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2137G>A; p.E713K; 15:45106136-45106136	skin	malignant_melanoma	Substitution - Missense
c.2971G>A; p.G991R; 15:45100789-45100789	skin; neck	malignant_melanoma	Substitution - Missense
c.3954C>T; p.F1318F; 15:45095954-45095954	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3184T>C; p.Y1062H; 15:45100050-45100050	skin	malignant_melanoma	Substitution - Missense
c.4025G>A; p.R1342H; 15:45095883-45095883	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1529G>A; p.R510Q; 15:45108092-45108092	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2301C>T; p.I767I; 15:45105676-45105676	skin	malignant_melanoma	Substitution - coding silent
c.3307C>T; p.R1103C; 15:45099770-45099770	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4025G>A; p.R1342H; 15:45095883-45095883	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4552G>A; p.G1518S; 15:45094245-45094245	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1335G>A; p.L445L; 15:45108852-45108852	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2766G>A; p.E922E; 15:45101878-45101878	skin	malignant_melanoma	Substitution - coding silent
c.4000C>T; p.R1334W; 15:45095908-45095908	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3273C>G; p.S1091S; 15:45099804-45099804	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2148+2T>C; p.?; 15:45106123-45106123	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.3261G>A; p.A1087A; 15:45099816-45099816	large_intestine; caecum	adenoma	Substitution - coding silent
c.4416C>T; p.F1472F; 15:45094671-45094671	skin	malignant_melanoma	Substitution - coding silent
c.2835A>G; p.G945G; 15:45101809-45101809	breast	carcinoma; HER-positive_carcinoma	Substitution - coding silent
c.4646G>A; p.1549; 15:45094151-45094151	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1117T>C; p.Y373H; 15:45109904-45109904	skin	malignant_melanoma	Substitution - Missense
c.2396G>T; p.R799L; 15:45104304-45104304	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4464C>T; p.T1488T; 15:45094623-45094623	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2664C>T; p.I888I; 15:45101980-45101980	skin; arm	malignant_melanoma	Substitution - coding silent
c.1059C>T; p.F353F; 15:45109962-45109962	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3583C>T; p.L1195L; 15:45097724-45097724	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3333G>A; p.E1111E; 15:45099744-45099744	skin	malignant_melanoma	Substitution - coding silent
c.2735G>A; p.G912E; 15:45101909-45101909	skin	malignant_melanoma	Substitution - Missense
c.911G>A; p.S304N; 15:45110682-45110682	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3635G>A; p.R1212H; 15:45097672-45097672	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3635G>A; p.R1212H; 15:45097672-45097672	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1866C>T; p.F622F; 15:45106607-45106607	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - coding silent
c.4371G>T; p.K1457N; 15:45094960-45094960	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3531G>T; p.Q1177H; 15:45098043-45098043	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2456C>T; p.P819L; 15:45104244-45104244	pancreas	carcinoma	Substitution - Missense
c.2396G>A; p.R799Q; 15:45104304-45104304	kidney	other; neoplasm	Substitution - Missense
c.1126C>T; p.R376W; 15:45109895-45109895	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1126C>T; p.R376W; 15:45109895-45109895	central_nervous_system; medulla	glioma; astrocytoma_Grade_III	Substitution - Missense
c.3728T>G; p.L1243R; 15:45097357-45097357	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.418T>C; p.F140L; 15:45111863-45111863	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2978C>T; p.P993L; 15:45100782-45100782	skin	malignant_melanoma	Substitution - Missense
c.888C>T; p.I296I; 15:45110705-45110705	skin	malignant_melanoma	Substitution - coding silent
c.3939C>T; p.T1313T; 15:45095969-45095969	breast	carcinoma	Substitution - coding silent
c.1891C>A; p.Q631K; 15:45106582-45106582	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2972G>A; p.G991E; 15:45100788-45100788	NS	malignant_melanoma	Substitution - Missense
c.4159A>C; p.I1387L; 15:45095517-45095517	thyroid	other; neoplasm	Substitution - Missense
c.963C>T; p.D321D; 15:45110505-45110505	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4048C>T; p.P1350S; 15:45095860-45095860	skin	malignant_melanoma	Substitution - Missense
c.2215C>T; p.R739C; 15:45105762-45105762	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1336C>T; p.L446L; 15:45108851-45108851	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1951G>A; p.E651K; 15:45106322-45106322	breast	carcinoma	Substitution - Missense
c.2944C>G; p.P982A; 15:45100816-45100816	thyroid	other; neoplasm	Substitution - Missense
c.2956G>A; p.E986K; 15:45100804-45100804	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.4171C>T; p.P1391S; 15:45095505-45095505	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4261C>T; p.R1421W; 15:45095070-45095070	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.413C>T; p.P138L; 15:45111868-45111868	thyroid	other; neoplasm	Substitution - Missense
c.3647G>A; p.R1216Q; 15:45097660-45097660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.3042G>A; p.A1014A; 15:45100192-45100192	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4368G>T; p.E1456D; 15:45094963-45094963	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1187C>T; p.S396F; 15:45109571-45109571	skin	malignant_melanoma	Substitution - Missense
c.2269A>G; p.K757E; 15:45105708-45105708	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.3200C>T; p.S1067L; 15:45099877-45099877	thyroid	other; neoplasm	Substitution - Missense
c.2465T>A; p.M822K; 15:45104235-45104235	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1263C>T; p.S421S; 15:45108924-45108924	central_nervous_system; brain	glioma	Substitution - coding silent
c.1263C>T; p.S421S; 15:45108924-45108924	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3632G>A; p.R1211H; 15:45097675-45097675	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3632G>A; p.R1211H; 15:45097675-45097675	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1731C>T; p.D577D; 15:45106932-45106932	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3646C>T; p.R1216W; 15:45097661-45097661	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4396-3_4396-2insC; p.?; 15:45094693-45094694	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3699C>T; p.I1233I; 15:45097386-45097386	breast	carcinoma	Substitution - coding silent
c.2511C>T; p.G837G; 15:45104189-45104189	breast	carcinoma	Substitution - coding silent
c.2640C>A; p.F880L; 15:45103974-45103974	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.212A>T; p.Q71L; 15:45112667-45112667	pancreas	NS	Substitution - Missense
c.3249A>G; p.S1083S; 15:45099828-45099828	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2640C>A; p.F880L; 15:45103974-45103974	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1614C>G; p.T538T; 15:45107424-45107424	pancreas	carcinoma	Substitution - coding silent
c.1607G>A; p.R536Q; 15:45107431-45107431	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.159T>C; p.V53V; 15:45112988-45112988	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4597G>A; p.V1533I; 15:45094200-45094200	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4003G>A; p.A1335T; 15:45095905-45095905	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1614C>G; p.T538T; 15:45107424-45107424	pancreas	carcinoma	Substitution - coding silent
c.1607G>A; p.R536Q; 15:45107431-45107431	skin	malignant_melanoma	Substitution - Missense
c.4032G>T; p.R1344S; 15:45095876-45095876	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1614C>G; p.T538T; 15:45107424-45107424	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.2704G>A; p.E902K; 15:45101940-45101940	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3077A>C; p.Q1026P; 15:45100157-45100157	thyroid	carcinoma	Substitution - Missense
c.1439C>G; p.S480C; 15:45108182-45108182	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4374C>T; p.F1458F; 15:45094957-45094957	skin	malignant_melanoma	Substitution - coding silent
c.4374C>T; p.F1458F; 15:45094957-45094957	skin	malignant_melanoma	Substitution - coding silent
c.4383G>T; p.R1461S; 15:45094948-45094948	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1461G>C; p.G487G; 15:45108160-45108160	thyroid	other; neoplasm	Substitution - coding silent
c.4217G>T; p.G1406V; 15:45095459-45095459	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3813G>A; p.E1271E; 15:45097272-45097272	skin	malignant_melanoma	Substitution - coding silent
c.2960C>A; p.A987D; 15:45100800-45100800	breast	carcinoma	Substitution - Missense
c.4502C>T; p.S1501F; 15:45094585-45094585	skin; leg	malignant_melanoma	Substitution - Missense
c.4144T>C; p.L1382L; 15:45095532-45095532	skin	malignant_melanoma	Substitution - coding silent
c.2569G>A; p.E857K; 15:45104045-45104045	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1593G>T; p.E531D; 15:45107445-45107445	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1103G>T; p.R368M; 15:45109918-45109918	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1298G>T; p.G433V; 15:45108889-45108889	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.471G>A; p.W157*; 15:45111810-45111810	skin	malignant_melanoma	Substitution - Nonsense
c.987G>T; p.V329V; 15:45110481-45110481	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.148C>T; p.R50C; 15:45112999-45112999	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1535G>C; p.R512P; 15:45108086-45108086	kidney	other; neoplasm	Substitution - Missense
c.1732G>A; p.G578S; 15:45106931-45106931	skin; scalp	malignant_melanoma	Substitution - Missense
c.3257C>T; p.T1086M; 15:45099820-45099820	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4433G>A; p.R1478Q; 15:45094654-45094654	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3365C>T; p.A1122V; 15:45099712-45099712	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3636C>T; p.R1212R; 15:45097671-45097671	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3361G>A; p.D1121N; 15:45099716-45099716	skin	malignant_melanoma	Substitution - Missense
c.2251G>A; p.E751K; 15:45105726-45105726	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4555C>T; p.P1519S; 15:45094242-45094242	skin	malignant_melanoma	Substitution - Missense
c.545G>A; p.S182N; 15:45111554-45111554	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2251G>A; p.E751K; 15:45105726-45105726	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3258G>T; p.T1086T; 15:45099819-45099819	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2627C>T; p.S876F; 15:45103987-45103987	skin	malignant_melanoma	Substitution - Missense
c.578A>G; p.D193G; 15:45111521-45111521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1636G>A; p.A546T; 15:45107402-45107402	oesophagus	carcinoma	Substitution - Missense
c.4369A>T; p.K1457*; 15:45094962-45094962	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3268G>A; p.V1090I; 15:45099809-45099809	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3268G>A; p.V1090I; 15:45099809-45099809	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1636G>A; p.A546T; 15:45107402-45107402	breast	carcinoma	Substitution - Missense
c.691C>A; p.Q231K; 15:45111408-45111408	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2127G>T; p.K709N; 15:45106146-45106146	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4442T>C; p.F1481S; 15:45094645-45094645	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.187G>C; p.A63P; 15:45112692-45112692	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2608G>T; p.D870Y; 15:45104006-45104006	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3971C>T; p.P1324L; 15:45095937-45095937	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3516-2A>G; p.?; 15:45098060-45098060	liver	carcinoma	Unknown
c.3516-2A>G; p.?; 15:45098060-45098060	liver	carcinoma	Unknown
c.2806C>T; p.R936C; 15:45101838-45101838	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3150C>T; p.A1050A; 15:45100084-45100084	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4391T>G; p.M1464R; 15:45094940-45094940	breast	carcinoma	Substitution - Missense
c.1600G>T; p.D534Y; 15:45107438-45107438	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4128A>T; p.K1376N; 15:45095548-45095548	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2561-1G>A; p.?; 15:45104054-45104054	breast	carcinoma	Unknown
c.2547G>A; p.V849V; 15:45104153-45104153	skin	malignant_melanoma	Substitution - coding silent
c.341C>T; p.S114F; 15:45111940-45111940	liver	carcinoma	Substitution - Missense
c.420C>T; p.F140F; 15:45111861-45111861	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2089C>T; p.L697L; 15:45106184-45106184	skin	malignant_melanoma	Substitution - coding silent
c.4323C>T; p.H1441H; 15:45095008-45095008	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1947G>A; p.A649A; 15:45106326-45106326	skin	malignant_melanoma	Substitution - coding silent
c.2130C>T; p.I710I; 15:45106143-45106143	skin	malignant_melanoma	Substitution - coding silent
c.4474C>T; p.R1492C; 15:45094613-45094613	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4352T>C; p.V1451A; 15:45094979-45094979	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1928C>T; p.A643V; 15:45106545-45106545	skin	malignant_melanoma	Substitution - Missense
c.405T>C; p.P135P; 15:45111876-45111876	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.3427G>A; p.A1143T; 15:45099471-45099471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2292G>C; p.R764R; 15:45105685-45105685	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2888G>A; p.R963Q; 15:45101238-45101238	NS	NS	Substitution - Missense
c.2906G>A; p.R969Q; 15:45101220-45101220	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2842G>T; p.G948C; 15:45101802-45101802	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4094G>A; p.G1365E; 15:45095582-45095582	skin	malignant_melanoma	Substitution - Missense
c.2136G>A; p.K712K; 15:45106137-45106137	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1078G>A; p.G360S; 15:45109943-45109943	skin; arm	malignant_melanoma	Substitution - Missense
c.4527G>A; p.V1509V; 15:45094270-45094270	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.2561G>A; p.G854D; 15:45104053-45104053	skin	malignant_melanoma	Substitution - Missense
c.3507G>T; p.V1169V; 15:45099391-45099391	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4114C>T; p.Q1372*; 15:45095562-45095562	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2830G>A; p.G944S; 15:45101814-45101814	skin	malignant_melanoma	Substitution - Missense
c.4015T>A; p.W1339R; 15:45095893-45095893	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2678A>G; p.N893S; 15:45101966-45101966	skin	malignant_melanoma	Substitution - Missense
c.1669C>T; p.P557S; 15:45107369-45107369	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1565C>G; p.T522S; 15:45108056-45108056	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3615C>T; p.F1205F; 15:45097692-45097692	central_nervous_system; brain	glioma	Substitution - coding silent
c.2033A>C; p.H678P; 15:45106240-45106240	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.193T>C; p.Y65H; 15:45112686-45112686	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2895_2898delGTTC; p.F966fs*29; 15:45101228-45101231	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2428G>A; p.E810K; 15:45104272-45104272	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3857A>G; p.Y1286C; 15:45096051-45096051	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.4316A>T; p.N1439I; 15:45095015-45095015	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4434G>A; p.R1478R; 15:45094653-45094653	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.908C>G; p.P303R; 15:45110685-45110685	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3132T>C; p.C1044C; 15:45100102-45100102	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4432C>T; p.R1478W; 15:45094655-45094655	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3331G>T; p.E1111*; 15:45099746-45099746	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4606C>T; p.Q1536*; 15:45094191-45094191	central_nervous_system; brainstem	glioma; oligoastrocytoma_Grade_III	Substitution - Nonsense
c.2167G>A; p.E723K; 15:45105810-45105810	skin	malignant_melanoma	Substitution - Missense
c.4046C>T; p.S1349F; 15:45095862-45095862	skin	malignant_melanoma	Substitution - Missense
c.1795G>A; p.A599T; 15:45106868-45106868	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3162C>T; p.G1054G; 15:45100072-45100072	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3162C>T; p.G1054G; 15:45100072-45100072	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2893_2896delTCGT; p.F966fs*29; 15:45101230-45101233	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1905A>C; p.K635N; 15:45106568-45106568	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1868G>A; p.R623Q; 15:45106605-45106605	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1666C>T; p.Q556*; 15:45107372-45107372	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1299C>T; p.G433G; 15:45108888-45108888	skin	malignant_melanoma	Substitution - coding silent
c.2635G>A; p.E879K; 15:45103979-45103979	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4004delC; p.A1335fs*85; 15:45095904-45095904	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.3282C>G; p.F1094L; 15:45099795-45099795	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3282C>G; p.F1094L; 15:45099795-45099795	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4481C>A; p.P1494H; 15:45094606-45094606	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.161-1G>T; p.?; 15:45112719-45112719	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1176G>T; p.L392L; 15:45109582-45109582	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4107G>A; p.E1369E; 15:45095569-45095569	skin	malignant_melanoma	Substitution - coding silent
c.952C>T; p.P318S; 15:45110516-45110516	skin	malignant_melanoma	Substitution - Missense
c.2242G>A; p.E748K; 15:45105735-45105735	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1656C>T; p.P552P; 15:45107382-45107382	skin	malignant_melanoma	Substitution - coding silent
c.1312C>A; p.L438M; 15:45108875-45108875	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.100G>A; p.E34K; 15:45113047-45113047	skin	malignant_melanoma	Substitution - Missense
c.1812T>C; p.A604A; 15:45106851-45106851	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.198C>A; p.A66A; 15:45112681-45112681	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2212G>A; p.V738M; 15:45105765-45105765	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.680C>A; p.P227H; 15:45111419-45111419	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.209A>G; p.Y70C; 15:45112670-45112670	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3260C>T; p.A1087V; 15:45099817-45099817	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1050C>T; p.S350S; 15:45109971-45109971	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4314G>C; p.E1438D; 15:45095017-45095017	skin	malignant_melanoma	Substitution - Missense
c.1516G>A; p.D506N; 15:45108105-45108105	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.3163G>A; p.V1055M; 15:45100071-45100071	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3163G>A; p.V1055M; 15:45100071-45100071	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4055G>A; p.G1352D; 15:45095853-45095853	prostate	carcinoma	Substitution - Missense
c.4585G>A; p.A1529T; 15:45094212-45094212	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2726G>A; p.R909Q; 15:45101918-45101918	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2726G>A; p.R909Q; 15:45101918-45101918	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.4612C>T; p.R1538*; 15:45094185-45094185	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3537C>A; p.F1179L; 15:45098037-45098037	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1136C>T; p.P379L; 15:45109622-45109622	liver	carcinoma	Substitution - Missense
c.1136C>T; p.P379L; 15:45109622-45109622	liver	carcinoma	Substitution - Missense
c.3209C>T; p.S1070L; 15:45099868-45099868	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3355C>G; p.P1119A; 15:45099722-45099722	prostate	carcinoma	Substitution - Missense
c.1782C>A; p.S594R; 15:45106881-45106881	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1091C>A; p.S364Y; 15:45109930-45109930	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.376G>A; p.A126T; 15:45111905-45111905	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2484C>T; p.F828F; 15:45104216-45104216	skin	malignant_melanoma	Substitution - coding silent
c.2810T>A; p.F937Y; 15:45101834-45101834	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2054T>C; p.V685A; 15:45106219-45106219	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4324C>T; p.Q1442*; 15:45095007-45095007	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; cortisol_producing	Substitution - Nonsense
c.1597G>A; p.E533K; 15:45107441-45107441	skin	malignant_melanoma	Substitution - Missense
c.1882A>T; p.K628*; 15:45106591-45106591	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3867C>T; p.F1289F; 15:45096041-45096041	skin	malignant_melanoma	Substitution - coding silent
c.2356G>A; p.D786N; 15:45104344-45104344	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4232G>A; p.C1411Y; 15:45095444-45095444	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3289A>G; p.I1097V; 15:45099788-45099788	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3289A>G; p.I1097V; 15:45099788-45099788	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2894C>T; p.S965L; 15:45101232-45101232	skin	malignant_melanoma	Substitution - Missense
c.4309G>A; p.E1437K; 15:45095022-45095022	skin	malignant_melanoma	Substitution - Missense
c.3498C>A; p.N1166K; 15:45099400-45099400	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3588C>T; p.L1196L; 15:45097719-45097719	skin	malignant_melanoma	Substitution - coding silent
c.934G>T; p.E312*; 15:45110659-45110659	skin; extremity	malignant_melanoma	Substitution - Nonsense
c.2413G>A; p.E805K; 15:45104287-45104287	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3738C>T; p.F1246F; 15:45097347-45097347	skin	malignant_melanoma	Substitution - coding silent
c.1873C>T; p.R625*; 15:45106600-45106600	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3817A>T; p.S1273C; 15:45097268-45097268	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.167G>A; p.R56Q; 15:45112712-45112712	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3231C>T; p.L1077L; 15:45099846-45099846	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.909C>T; p.P303P; 15:45110684-45110684	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1950G>A; p.M650I; 15:45106323-45106323	skin	malignant_melanoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation