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	1137
Symbol	CHRNA4
Synonymous	BFNC\|EBN\|EBN1\|NACHR\|NACHRA4\|NACRA4
Full name	cholinergic receptor, nicotinic, alpha 4 (neuronal)
Gene description	cholinergic receptor, nicotinic, alpha polypeptide 4\|neuronal acetylcholine receptor subunit alpha-4\|neuronal nicotinic acetylcholine receptor alpha-4 subunit
Cytoband	20q13.33
Gene type	protein-coding
Synonymous	MIM:118504; HGNC:HGNC:1958; Ensembl:ENSG00000101204; HPRD:00333; Vega:OTTHUMG00000033080

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.851C>T; p.S284L; 20:63350560-63350560	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.858C>T; p.T286T; 20:63350553-63350553	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.225C>A; p.D75E; 20:63359551-63359551	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.461delC; p.P154fs*24; 20:63350950-63350950	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.461delC; p.P154fs*24; 20:63350950-63350950	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.304C>T; p.P102S; 20:63356054-63356054	skin	malignant_melanoma	Substitution - Missense
c.712G>A; p.V238I; 20:63350699-63350699	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1708G>A; p.G570S; 20:63349703-63349703	urinary_tract; bladder	carcinoma	Substitution - Missense
c.945C>A; p.I315I; 20:63350466-63350466	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1210C>T; p.P404S; 20:63350201-63350201	skin	malignant_melanoma	Substitution - Missense
c.1666C>A; p.P556T; 20:63349745-63349745	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1026C>A; p.T342T; 20:63350385-63350385	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.681C>T; p.A227A; 20:63350730-63350730	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.489C>T; p.I163I; 20:63350922-63350922	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.114G>A; p.E38E; 20:63359662-63359662	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.1079G>A; p.R360Q; 20:63350332-63350332	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1867C>A; p.L623M; 20:63346755-63346755	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.100G>T; p.A34S; 20:63359676-63359676	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1775A>C; p.K592T; 20:63346847-63346847	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.812G>A; p.C271Y; 20:63350599-63350599	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1336C>T; p.P446S; 20:63350075-63350075	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1634C>G; p.T545R; 20:63349777-63349777	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.1082C>T; p.P361L; 20:63350329-63350329	prostate	carcinoma	Substitution - Missense
c.1082C>T; p.P361L; 20:63350329-63350329	prostate	carcinoma	Substitution - Missense
c.1082C>T; p.P361L; 20:63350329-63350329	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1675C>T; p.P559S; 20:63349736-63349736	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1082C>T; p.P361L; 20:63350329-63350329	prostate	carcinoma	Substitution - Missense
c.757C>A; p.P253T; 20:63350654-63350654	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1697G>A; p.R566Q; 20:63349714-63349714	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1697G>A; p.R566Q; 20:63349714-63349714	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.402G>T; p.A134A; 20:63351009-63351009	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1597T>C; p.C533R; 20:63349814-63349814	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.1622_1623CC>GT; p.S541C; 20:63349788-63349789	skin	malignant_melanoma	Substitution - Missense
c.487A>G; p.I163V; 20:63350924-63350924	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.499T>G; p.F167V; 20:63350912-63350912	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1759G>A; p.V587M; 20:63346863-63346863	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1068C>T; p.L356L; 20:63350343-63350343	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.619_620GG>AA; p.G207N; 20:63350791-63350792	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.189C>T; p.L63L; 20:63359587-63359587	thyroid	other; neoplasm	Substitution - coding silent
c.1629C>T; p.S543S; 20:63349782-63349782	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.109G>A; p.E37K; 20:63359667-63359667	urinary_tract; bladder	carcinoma	Substitution - Missense
c.964G>A; p.V322I; 20:63350447-63350447	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1629C>T; p.S543S; 20:63349782-63349782	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1426G>A; p.E476K; 20:63349985-63349985	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1629C>T; p.S543S; 20:63349782-63349782	thyroid	other; neoplasm	Substitution - coding silent
c.1218G>A; p.P406P; 20:63350193-63350193	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.162C>T; p.P54P; 20:63359614-63359614	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.493G>A; p.V165I; 20:63350918-63350918	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.441G>A; p.G147G; 20:63350970-63350970	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.452G>T; p.W151L; 20:63350959-63350959	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.132C>T; p.L44L; 20:63359644-63359644	skin	malignant_melanoma	Substitution - coding silent
c.634G>A; p.V212M; 20:63350777-63350777	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.628G>T; p.V210F; 20:63350783-63350783	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.193C>T; p.R65C; 20:63359583-63359583	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.849G>T; p.L283L; 20:63350562-63350562	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1177C>T; p.P393S; 20:63350234-63350234	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Missense
c.1105C>T; p.R369W; 20:63350306-63350306	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1105C>T; p.R369W; 20:63350306-63350306	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.393G>A; p.G131G; 20:63351018-63351018	skin	malignant_melanoma	Substitution - coding silent
c.1188C>A; p.S396R; 20:63350223-63350223	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.537C>T; p.F179F; 20:63350874-63350874	skin	malignant_melanoma	Substitution - coding silent
c.1547A>C; p.H516P; 20:63349864-63349864	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.537C>T; p.F179F; 20:63350874-63350874	skin	malignant_melanoma	Substitution - coding silent
c.180C>A; p.D60E; 20:63359596-63359596	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1230C>T; p.V410V; 20:63350181-63350181	skin	malignant_melanoma	Substitution - coding silent
c.261A>G; p.V87V; 20:63356383-63356383	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1300C>T; p.P434S; 20:63350111-63350111	breast	carcinoma	Substitution - Missense
c.987C>T; p.N329N; 20:63350424-63350424	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.156C>A; p.S52S; 20:63359620-63359620	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.987C>T; p.N329N; 20:63350424-63350424	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.780C>T; p.L260L; 20:63350631-63350631	skin	malignant_melanoma	Substitution - coding silent
c.274G>A; p.E92K; 20:63356084-63356084	skin	malignant_melanoma	Substitution - Missense
c.1499_1500CC>TA; p.P500L; 20:63349911-63349912	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.915C>A; p.L305L; 20:63350496-63350496	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1728C>T; p.D576D; 20:63349683-63349683	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1525G>A; p.A509T; 20:63349886-63349886	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1188C>G; p.S396R; 20:63350223-63350223	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1757C>T; p.S586L; 20:63349654-63349654	skin	malignant_melanoma	Substitution - Missense
c.1757C>T; p.S586L; 20:63349654-63349654	skin	malignant_melanoma	Substitution - Missense
c.1000T>A; p.S334T; 20:63350411-63350411	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1682C>T; p.S561L; 20:63349729-63349729	pancreas	carcinoma	Substitution - Missense
c.138C>T; p.S46S; 20:63359638-63359638	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.729G>A; p.P243P; 20:63350682-63350682	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.729G>A; p.P243P; 20:63350682-63350682	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.400G>A; p.A134T; 20:63351011-63351011	large_intestine; caecum	adenoma	Substitution - Missense
c.155C>T; p.S52F; 20:63359621-63359621	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1755C>T; p.F585F; 20:63349656-63349656	skin	malignant_melanoma	Substitution - coding silent
c.1227T>C; p.C409C; 20:63350184-63350184	thyroid	other; neoplasm	Substitution - coding silent
c.600G>T; p.Q200H; 20:63350811-63350811	breast	carcinoma	Substitution - Missense
c.1700C>T; p.A567V; 20:63349711-63349711	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1700C>T; p.A567V; 20:63349711-63349711	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1700C>T; p.A567V; 20:63349711-63349711	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.966C>T; p.V322V; 20:63350445-63350445	skin	malignant_melanoma	Substitution - coding silent
c.694G>T; p.D232Y; 20:63350717-63350717	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.873C>G; p.L291L; 20:63350538-63350538	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1737G>A; p.K579K; 20:63349674-63349674	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.894C>A; p.S298S; 20:63350517-63350517	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.885C>T; p.I295I; 20:63350526-63350526	skin	malignant_melanoma	Substitution - coding silent
c.815G>A; p.G272D; 20:63350596-63350596	breast	carcinoma	Substitution - Missense
c.1659G>A; p.A553A; 20:63349752-63349752	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1659G>A; p.A553A; 20:63349752-63349752	thyroid	other; neoplasm	Substitution - coding silent
c.1711G>A; p.V571I; 20:63349700-63349700	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.735C>A; p.F245L; 20:63350676-63350676	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.110A>T; p.E37V; 20:63359666-63359666	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.166G>T; p.A56S; 20:63359610-63359610	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1711G>A; p.V571I; 20:63349700-63349700	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.700A>G; p.T234A; 20:63350711-63350711	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1122C>T; p.S374S; 20:63350289-63350289	skin	malignant_melanoma	Substitution - coding silent
c.603G>A; p.L201L; 20:63350808-63350808	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.258C>T; p.N86N; 20:63356386-63356386	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1487A>T; p.D496V; 20:63349924-63349924	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1007G>A; p.R336H; 20:63350404-63350404	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.580A>G; p.M194V; 20:63350831-63350831	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1007G>A; p.R336H; 20:63350404-63350404	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.526A>G; p.T176A; 20:63350885-63350885	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.969C>T; p.I323I; 20:63350442-63350442	skin	malignant_melanoma	Substitution - coding silent
c.418A>G; p.K140E; 20:63350993-63350993	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.572T>A; p.L191Q; 20:63350839-63350839	ovary	carcinoma	Substitution - Missense
c.711C>T; p.F237F; 20:63350700-63350700	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1027T>A; p.W343R; 20:63350384-63350384	pancreas	carcinoma	Substitution - Missense
c.1203G>C; p.L401L; 20:63350208-63350208	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1147C>T; p.R383C; 20:63350264-63350264	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.825C>G; p.I275M; 20:63350586-63350586	skin	malignant_melanoma	Substitution - Missense
c.878C>T; p.T293I; 20:63350533-63350533	skin	malignant_melanoma	Substitution - Missense
c.1145delC; p.P382fs*183; 20:63350266-63350266	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.753C>T; p.I251I; 20:63350658-63350658	skin	malignant_melanoma	Substitution - coding silent
c.1758+7C>A; p.?; 20:63349646-63349646	liver	carcinoma	Unknown
c.1758+7C>A; p.?; 20:63349646-63349646	liver	carcinoma	Unknown
c.1630G>A; p.A544T; 20:63349781-63349781	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.970A>G; p.T324A; 20:63350441-63350441	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.970A>G; p.T324A; 20:63350441-63350441	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1061G>A; p.R354H; 20:63350350-63350350	skin	malignant_melanoma	Substitution - Missense
c.1874G>A; p.G625D; 20:63346748-63346748	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1550C>G; p.S517W; 20:63349861-63349861	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1874G>A; p.G625D; 20:63346748-63346748	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.774C>T; p.S258S; 20:63350637-63350637	skin	malignant_melanoma	Substitution - coding silent
c.1209G>T; p.P403P; 20:63350202-63350202	thyroid	other; neoplasm	Substitution - coding silent
c.137C>T; p.S46F; 20:63359639-63359639	skin	malignant_melanoma	Substitution - Missense
c.1541A>G; p.N514S; 20:63349870-63349870	skin	malignant_melanoma	Substitution - Missense
c.998G>A; p.R333H; 20:63350413-63350413	breast	carcinoma	Substitution - Missense
c.773C>G; p.S258C; 20:63350638-63350638	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.998G>A; p.R333H; 20:63350413-63350413	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.158G>A; p.R53Q; 20:63359618-63359618	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1616C>T; p.S539L; 20:63349795-63349795	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1335G>A; p.S445S; 20:63350076-63350076	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.464C>G; p.A155G; 20:63350947-63350947	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.861C>G; p.V287V; 20:63350550-63350550	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1701G>A; p.A567A; 20:63349710-63349710	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.310G>C; p.D104H; 20:63356048-63356048	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.839C>T; p.S280F; 20:63350572-63350572	skin	malignant_melanoma	Substitution - Missense
c.839C>T; p.S280F; 20:63350572-63350572	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.481T>C; p.C161R; 20:63350930-63350930	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.589C>T; p.R197C; 20:63350822-63350822	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1635G>A; p.T545T; 20:63349776-63349776	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1299G>A; p.Q433Q; 20:63350112-63350112	liver	carcinoma	Substitution - coding silent
c.714C>T; p.V238V; 20:63350697-63350697	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1299G>A; p.Q433Q; 20:63350112-63350112	liver	carcinoma	Substitution - coding silent
c.528C>A; p.T176T; 20:63350883-63350883	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1799G>A; p.R600H; 20:63346823-63346823	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.949G>A; p.V317I; 20:63350462-63350462	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.877A>C; p.T293P; 20:63350534-63350534	breast	carcinoma	Substitution - Missense
c.1232_1233CC>TT; p.P411L; 20:63350178-63350179	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1359C>T; p.H453H; 20:63350052-63350052	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1839G>A; p.G613G; 20:63346783-63346783	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1030G>A; p.V344I; 20:63350381-63350381	skin	malignant_melanoma	Substitution - Missense
c.1839G>A; p.G613G; 20:63346783-63346783	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.522C>A; p.N174K; 20:63350889-63350889	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1006C>T; p.R336C; 20:63350405-63350405	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.342C>A; p.P114P; 20:63356016-63356016	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1432G>A; p.V478M; 20:63349979-63349979	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1178delC; p.P393fs*172; 20:63350233-63350233	liver	carcinoma	Deletion - Frameshift
c.1488C>T; p.D496D; 20:63349923-63349923	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1444G>A; p.V482I; 20:63349967-63349967	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1106G>A; p.R369Q; 20:63350305-63350305	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1287C>A; p.L429L; 20:63350124-63350124	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1450T>C; p.C484R; 20:63349961-63349961	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.827C>T; p.T276M; 20:63350584-63350584	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.827C>T; p.T276M; 20:63350584-63350584	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1148G>A; p.R383H; 20:63350263-63350263	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.176C>T; p.S59L; 20:63359600-63359600	skin; extremity	malignant_melanoma	Substitution - Missense
c.1644C>A; p.T548T; 20:63349767-63349767	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.176C>T; p.S59L; 20:63359600-63359600	skin	malignant_melanoma	Substitution - Missense
c.750C>T; p.L250L; 20:63350661-63350661	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.750C>T; p.L250L; 20:63350661-63350661	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.796T>C; p.Y266H; 20:63350615-63350615	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.578A>G; p.N193S; 20:63350833-63350833	skin	malignant_melanoma	Substitution - Missense
c.490G>A; p.D164N; 20:63350921-63350921	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.506C>T; p.P169L; 20:63350905-63350905	skin	malignant_melanoma	Substitution - Missense
c.794T>C; p.F265S; 20:63350617-63350617	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.963C>T; p.I321I; 20:63350448-63350448	skin	malignant_melanoma	Substitution - coding silent
c.963C>T; p.I321I; 20:63350448-63350448	skin; shoulder	malignant_melanoma	Substitution - coding silent
c.650C>G; p.T217S; 20:63350761-63350761	breast	carcinoma	Substitution - Missense
c.1003C>A; p.P335T; 20:63350408-63350408	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1188C>T; p.S396S; 20:63350223-63350223	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.784G>A; p.V262M; 20:63350627-63350627	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.244A>T; p.M82L; 20:63356400-63356400	thyroid	other; neoplasm	Substitution - Missense
c.1854C>T; p.F618F; 20:63346768-63346768	skin	malignant_melanoma	Substitution - coding silent
c.1107G>A; p.R369R; 20:63350304-63350304	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1537C>A; p.R513S; 20:63349874-63349874	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1869G>C; p.L623L; 20:63346753-63346753	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Substitution - coding silent
c.1795G>A; p.D599N; 20:63346827-63346827	skin	malignant_melanoma	Substitution - Missense
c.51G>A; p.L17L; 20:63361115-63361115	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1301C>T; p.P434L; 20:63350110-63350110	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1301C>T; p.P434L; 20:63350110-63350110	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.732C>G; p.L244L; 20:63350679-63350679	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1331C>A; p.P444H; 20:63350080-63350080	lung	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation