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	3741
Symbol	KCNA5
Synonymous	ATFB7\|HCK1\|HK2\|HPCN1\|KV1.5\|PCN1
Full name	potassium channel, voltage gated shaker related subfamily A, member 5
Gene description	cardiac potassium channel\|insulinoma and islet potassium channel\|potassium channel 1\|potassium voltage-gated channel subfamily A member 5\|potassium voltage-gated channel, shaker-related subfamily, member 5\|voltage-gated potassium channel HK2\|voltage-gated
Cytoband	12p13
Gene type	protein-coding
Synonymous	MIM:176267; HGNC:HGNC:6224; Ensembl:ENSG00000130037; HPRD:08888; Vega:OTTHUMG00000168232

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1362C>T; p.F454F; 12:5045509-5045509	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.563C>T; p.P188L; 12:5044710-5044710	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.563C>T; p.P188L; 12:5044710-5044710	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1776C>T; p.S592S; 12:5045923-5045923	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1540G>T; p.V514F; 12:5045687-5045687	prostate	carcinoma	Substitution - Missense
c.315C>A; p.G105G; 12:5044462-5044462	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.167C>T; p.A56V; 12:5044314-5044314	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.990G>A; p.T330T; 12:5045137-5045137	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1822A>G; p.S608G; 12:5045969-5045969	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.757G>A; p.A253T; 12:5044904-5044904	pancreas	carcinoma	Substitution - Missense
c.757G>A; p.A253T; 12:5044904-5044904	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.496G>T; p.D166Y; 12:5044643-5044643	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.717C>T; p.I239I; 12:5044864-5044864	skin	malignant_melanoma	Substitution - coding silent
c.717C>T; p.I239I; 12:5044864-5044864	skin	malignant_melanoma	Substitution - coding silent
c.1061G>A; p.R354Q; 12:5045208-5045208	liver	carcinoma	Substitution - Missense
c.1134G>T; p.E378D; 12:5045281-5045281	breast	carcinoma	Substitution - Missense
c.740G>T; p.G247V; 12:5044887-5044887	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1061G>A; p.R354Q; 12:5045208-5045208	liver	carcinoma	Substitution - Missense
c.1061G>A; p.R354Q; 12:5045208-5045208	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1818C>A; p.D606E; 12:5045965-5045965	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.911T>A; p.M304K; 12:5045058-5045058	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.528_530delCTA; p.Y179delY; 12:5044675-5044677	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1796_1797CC>GT; p.S599C; 12:5045943-5045944	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.700C>T; p.R234C; 12:5044847-5044847	breast	carcinoma	Substitution - Missense
c.1036T>A; p.C346S; 12:5045183-5045183	breast	carcinoma	Substitution - Missense
c.700C>T; p.R234C; 12:5044847-5044847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1612G>A; p.E538K; 12:5045759-5045759	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1790G>A; p.R597Q; 12:5045937-5045937	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.758C>G; p.A253G; 12:5044905-5044905	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.521G>A; p.G174D; 12:5044668-5044668	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1614G>A; p.E538E; 12:5045761-5045761	skin	malignant_melanoma	Substitution - coding silent
c.92G>A; p.G31E; 12:5044239-5044239	liver	carcinoma	Substitution - Missense
c.92G>A; p.G31E; 12:5044239-5044239	liver	carcinoma	Substitution - Missense
c.1645G>A; p.D549N; 12:5045792-5045792	skin	malignant_melanoma	Substitution - Missense
c.817C>T; p.P273S; 12:5044964-5044964	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.817C>T; p.P273S; 12:5044964-5044964	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1301T>C; p.L434P; 12:5045448-5045448	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1430C>A; p.T477N; 12:5045577-5045577	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1506C>T; p.I502I; 12:5045653-5045653	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.455G>A; p.R152H; 12:5044602-5044602	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.455G>A; p.R152H; 12:5044602-5044602	soft_tissue; striated_muscle	rhabdomyosarcoma; alveolar	Substitution - Missense
c.1662G>A; p.R554R; 12:5045809-5045809	skin	malignant_melanoma	Substitution - coding silent
c.1194C>A; p.I398I; 12:5045341-5045341	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.582C>T; p.D194D; 12:5044729-5044729	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.751G>A; p.A251T; 12:5044898-5044898	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.341C>T; p.T114M; 12:5044488-5044488	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1557C>T; p.F519F; 12:5045704-5045704	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1237C>A; p.L413I; 12:5045384-5045384	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1025G>T; p.R342L; 12:5045172-5045172	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1077C>T; p.I359I; 12:5045224-5045224	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.544G>A; p.G182R; 12:5044691-5044691	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.877G>A; p.A293T; 12:5045024-5045024	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.877G>A; p.A293T; 12:5045024-5045024	thyroid	carcinoma	Substitution - Missense
c.932C>A; p.T311K; 12:5045079-5045079	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1618G>T; p.G540C; 12:5045765-5045765	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.932C>A; p.T311K; 12:5045079-5045079	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.934G>A; p.V312M; 12:5045081-5045081	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1345T>C; p.S449P; 12:5045492-5045492	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.883G>A; p.A295T; 12:5045030-5045030	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1619G>A; p.G540D; 12:5045766-5045766	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.635G>A; p.R212H; 12:5044782-5044782	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1195C>T; p.L399F; 12:5045342-5045342	liver	carcinoma	Substitution - Missense
c.1195C>T; p.L399F; 12:5045342-5045342	liver	carcinoma	Substitution - Missense
c.1407C>A; p.D469E; 12:5045554-5045554	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1659G>T; p.Q553H; 12:5045806-5045806	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.630G>A; p.M210I; 12:5044777-5044777	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1212G>C; p.L404L; 12:5045359-5045359	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.307G>A; p.G103S; 12:5044454-5044454	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1573C>T; p.R525W; 12:5045720-5045720	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.590C>T; p.A197V; 12:5044737-5044737	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.590C>T; p.A197V; 12:5044737-5044737	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1573C>T; p.R525W; 12:5045720-5045720	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1573C>T; p.R525W; 12:5045720-5045720	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1573C>T; p.R525W; 12:5045720-5045720	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1198C>T; p.R400*; 12:5045345-5045345	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1420_1421delGC; p.A474fs*62; 12:5045567-5045568	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.1472T>C; p.V491A; 12:5045619-5045619	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1624C>A; p.Q542K; 12:5045771-5045771	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1509C>T; p.A503A; 12:5045656-5045656	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.613C>G; p.L205V; 12:5044760-5044760	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1752G>A; p.E584E; 12:5045899-5045899	skin	malignant_melanoma	Substitution - coding silent
c.866A>G; p.H289R; 12:5045013-5045013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.344C>T; p.A115V; 12:5044491-5044491	prostate	carcinoma	Substitution - Missense
c.1598C>T; p.A533V; 12:5045745-5045745	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.600A>G; p.I200M; 12:5044747-5044747	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1521C>A; p.T507T; 12:5045668-5045668	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.909C>T; p.V303V; 12:5045056-5045056	skin	malignant_melanoma	Substitution - coding silent
c.861G>A; p.A287A; 12:5045008-5045008	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.681G>T; p.L227L; 12:5044828-5044828	NS	NS	Substitution - coding silent
c.470A>G; p.D157G; 12:5044617-5044617	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1381G>A; p.G461R; 12:5045528-5045528	skin	malignant_melanoma	Substitution - Missense
c.978C>T; p.I326I; 12:5045125-5045125	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.841_842CT>TA; p.L281*; 12:5044988-5044989	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.482A>G; p.N161S; 12:5044629-5044629	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.978C>T; p.I326I; 12:5045125-5045125	skin	malignant_melanoma	Substitution - coding silent
c.1509C>A; p.A503A; 12:5045656-5045656	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.550C>T; p.R184C; 12:5044697-5044697	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1711G>A; p.E571K; 12:5045858-5045858	skin	malignant_melanoma	Substitution - Missense
c.1764C>T; p.V588V; 12:5045911-5045911	breast	carcinoma	Substitution - coding silent
c.1191C>A; p.A397A; 12:5045338-5045338	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1656C>T; p.V552V; 12:5045803-5045803	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1329C>T; p.I443I; 12:5045476-5045476	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1461G>A; p.R487R; 12:5045608-5045608	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.460C>T; p.R154C; 12:5044607-5044607	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.686G>A; p.R229H; 12:5044833-5044833	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.933G>A; p.T311T; 12:5045080-5045080	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.749G>A; p.R250Q; 12:5044896-5044896	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.460C>T; p.R154C; 12:5044607-5044607	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.954G>A; p.R318R; 12:5045101-5045101	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.744C>G; p.S248S; 12:5044891-5044891	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.918G>A; p.P306P; 12:5045065-5045065	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.918G>A; p.P306P; 12:5045065-5045065	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1207C>T; p.R403C; 12:5045354-5045354	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.918G>A; p.P306P; 12:5045065-5045065	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1514T>C; p.V505A; 12:5045661-5045661	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1363G>A; p.A455T; 12:5045510-5045510	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1475G>A; p.G492E; 12:5045622-5045622	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.362G>A; p.R121H; 12:5044509-5044509	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1394C>T; p.S465F; 12:5045541-5045541	skin	malignant_melanoma	Substitution - Missense
c.1702G>T; p.G568W; 12:5045849-5045849	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1779C>T; p.N593N; 12:5045926-5045926	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1020C>T; p.L340L; 12:5045167-5045167	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.747G>A; p.A249A; 12:5044894-5044894	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1059C>G; p.S353S; 12:5045206-5045206	kidney	other; neoplasm	Substitution - coding silent
c.804C>A; p.C268*; 12:5044951-5044951	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1059C>G; p.S353S; 12:5045206-5045206	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.558G>A; p.R186R; 12:5044705-5044705	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.558G>A; p.R186R; 12:5044705-5044705	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.905G>A; p.G302E; 12:5045052-5045052	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1536G>C; p.V512V; 12:5045683-5045683	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1703G>T; p.G568V; 12:5045850-5045850	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1486G>A; p.V496M; 12:5045633-5045633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1671C>T; p.S557S; 12:5045818-5045818	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.500G>A; p.R167H; 12:5044647-5044647	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.994G>A; p.V332I; 12:5045141-5045141	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.868C>A; p.Q290K; 12:5045015-5045015	breast	carcinoma	Substitution - Missense
c.420G>T; p.Q140H; 12:5044567-5044567	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1095C>G; p.I365M; 12:5045242-5045242	liver	carcinoma	Substitution - Missense
c.1095C>G; p.I365M; 12:5045242-5045242	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.577C>T; p.L193L; 12:5044724-5044724	skin	malignant_melanoma	Substitution - coding silent
c.398C>G; p.T133R; 12:5044545-5044545	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.483C>T; p.N161N; 12:5044630-5044630	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1745C>T; p.P582L; 12:5045892-5045892	skin	malignant_melanoma	Substitution - Missense
c.897C>T; p.N299N; 12:5045044-5045044	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.897C>T; p.N299N; 12:5045044-5045044	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - coding silent
c.1745C>T; p.P582L; 12:5045892-5045892	skin	malignant_melanoma	Substitution - Missense
c.841C>A; p.L281M; 12:5044988-5044988	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1701G>T; p.G567G; 12:5045848-5045848	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1604T>G; p.L535R; 12:5045751-5045751	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.516C>T; p.F172F; 12:5044663-5044663	breast	carcinoma	Substitution - coding silent
c.1121C>A; p.T374N; 12:5045268-5045268	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.792C>T; p.I264I; 12:5044939-5044939	skin	malignant_melanoma	Substitution - coding silent
c.641G>A; p.R214H; 12:5044788-5044788	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.410C>T; p.T137I; 12:5044557-5044557	skin	malignant_melanoma	Substitution - Missense
c.272C>T; p.P91L; 12:5044419-5044419	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1320C>T; p.F440F; 12:5045467-5045467	skin	malignant_melanoma	Substitution - coding silent
c.1121C>T; p.T374I; 12:5045268-5045268	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.586T>C; p.F196L; 12:5044733-5044733	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1661G>A; p.R554Q; 12:5045808-5045808	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1510G>C; p.G504R; 12:5045657-5045657	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1510G>A; p.G504R; 12:5045657-5045657	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.638T>A; p.F213Y; 12:5044785-5044785	breast	carcinoma	Substitution - Missense
c.668A>T; p.E223V; 12:5044815-5044815	pancreas	carcinoma	Substitution - Missense
c.1730G>A; p.R577Q; 12:5045877-5045877	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1603C>T; p.L535F; 12:5045750-5045750	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1730G>A; p.R577Q; 12:5045877-5045877	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1601T>G; p.V534G; 12:5045748-5045748	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.499C>T; p.R167C; 12:5044646-5044646	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.599T>C; p.I200T; 12:5044746-5044746	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1540G>C; p.V514L; 12:5045687-5045687	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.758C>T; p.A253V; 12:5044905-5044905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.843G>A; p.L281L; 12:5044990-5044990	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.700C>G; p.R234G; 12:5044847-5044847	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1060C>T; p.R354W; 12:5045207-5045207	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.526C>T; p.L176F; 12:5044673-5044673	skin	malignant_melanoma	Substitution - Missense
c.1644G>A; p.L548L; 12:5045791-5045791	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.860C>T; p.A287V; 12:5045007-5045007	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1161C>T; p.G387G; 12:5045308-5045308	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.406G>A; p.G136S; 12:5044553-5044553	urinary_tract; bladder	carcinoma	Substitution - Missense
c.602G>A; p.R201H; 12:5044749-5044749	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.602G>A; p.R201H; 12:5044749-5044749	breast	carcinoma	Substitution - Missense
c.1100C>A; p.P367H; 12:5045247-5045247	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1463C>T; p.P488L; 12:5045610-5045610	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.495C>T; p.F165F; 12:5044642-5044642	skin	malignant_melanoma	Substitution - coding silent
c.519C>T; p.D173D; 12:5044666-5044666	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.519C>T; p.D173D; 12:5044666-5044666	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1587C>A; p.H529Q; 12:5045734-5045734	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.622G>A; p.E208K; 12:5044769-5044769	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.403C>T; p.L135L; 12:5044550-5044550	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.908T>G; p.V303G; 12:5045055-5045055	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1485C>G; p.I495M; 12:5045632-5045632	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1773G>T; p.K591N; 12:5045920-5045920	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.595G>A; p.E199K; 12:5044742-5044742	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.878C>T; p.A293V; 12:5045025-5045025	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.717C>A; p.I239I; 12:5044864-5044864	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1797C>A; p.S599S; 12:5045944-5045944	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.878C>T; p.A293V; 12:5045025-5045025	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.418C>G; p.Q140E; 12:5044565-5044565	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1685C>T; p.S562F; 12:5045832-5045832	skin	malignant_melanoma	Substitution - Missense
c.1685C>T; p.S562F; 12:5045832-5045832	skin	malignant_melanoma	Substitution - Missense
c.589G>A; p.A197T; 12:5044736-5044736	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1685C>T; p.S562F; 12:5045832-5045832	NS	malignant_melanoma	Substitution - Missense
c.617G>A; p.G206E; 12:5044764-5044764	skin	malignant_melanoma	Substitution - Missense
c.1685C>T; p.S562F; 12:5045832-5045832	NS	malignant_melanoma	Substitution - Missense
c.1685C>T; p.S562F; 12:5045832-5045832	skin	malignant_melanoma	Substitution - Missense
c.1582G>A; p.D528N; 12:5045729-5045729	skin	malignant_melanoma	Substitution - Missense
c.1695G>C; p.K565N; 12:5045842-5045842	breast	carcinoma	Substitution - Missense
c.1580C>A; p.T527K; 12:5045727-5045727	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.967C>A; p.P323T; 12:5045114-5045114	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.857C>T; p.P286L; 12:5045004-5045004	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1011C>A; p.F337L; 12:5045158-5045158	skin	malignant_melanoma	Substitution - Missense
c.1243C>T; p.R415C; 12:5045390-5045390	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1255G>T; p.G419W; 12:5045402-5045402	breast	carcinoma	Substitution - Missense
c.1240T>C; p.S414P; 12:5045387-5045387	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1240T>C; p.S414P; 12:5045387-5045387	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1240T>C; p.S414P; 12:5045387-5045387	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1240T>C; p.S414P; 12:5045387-5045387	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.643G>A; p.E215K; 12:5044790-5044790	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1240T>C; p.S414P; 12:5045387-5045387	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1240T>C; p.S414P; 12:5045387-5045387	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.1123G>A; p.E375K; 12:5045270-5045270	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1123G>A; p.E375K; 12:5045270-5045270	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.643G>A; p.E215K; 12:5044790-5044790	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.808G>C; p.E270Q; 12:5044955-5044955	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1240T>C; p.S414P; 12:5045387-5045387	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.570C>T; p.N190N; 12:5044717-5044717	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.570C>T; p.N190N; 12:5044717-5044717	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.907G>A; p.V303I; 12:5045054-5045054	breast	carcinoma	Substitution - Missense
c.1392C>A; p.F464L; 12:5045539-5045539	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1392C>A; p.F464L; 12:5045539-5045539	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.979G>A; p.V327M; 12:5045126-5045126	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1407C>T; p.D469D; 12:5045554-5045554	pancreas	carcinoma	Substitution - coding silent
c.235C>A; p.P79T; 12:5044382-5044382	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.727C>T; p.P243S; 12:5044874-5044874	skin	malignant_melanoma	Substitution - Missense
c.356A>G; p.H119R; 12:5044503-5044503	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1762G>A; p.V588I; 12:5045909-5045909	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1470T>A; p.T490T; 12:5045617-5045617	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.496G>A; p.D166N; 12:5044643-5044643	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.883G>T; p.A295S; 12:5045030-5045030	pancreas	carcinoma	Substitution - Missense
c.1248C>T; p.H416H; 12:5045395-5045395	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.835C>T; p.R279C; 12:5044982-5044982	urinary_tract; bladder	carcinoma	Substitution - Missense
c.945C>A; p.L315L; 12:5045092-5045092	pancreas	carcinoma	Substitution - coding silent
c.1609G>A; p.E537K; 12:5045756-5045756	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.835C>T; p.R279C; 12:5044982-5044982	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1244G>A; p.R415H; 12:5045391-5045391	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.334C>T; p.L112L; 12:5044481-5044481	breast	carcinoma	Substitution - coding silent
c.787T>G; p.S263A; 12:5044934-5044934	thyroid	carcinoma	Substitution - Missense
c.762C>T; p.I254I; 12:5044909-5044909	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1098C>A; p.F366L; 12:5045245-5045245	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1596G>T; p.P532P; 12:5045743-5045743	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1158C>T; p.G386G; 12:5045305-5045305	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.835C>A; p.R279S; 12:5044982-5044982	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.646G>T; p.D216Y; 12:5044793-5044793	breast	carcinoma	Substitution - Missense
c.1158C>T; p.G386G; 12:5045305-5045305	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.767C>T; p.S256L; 12:5044914-5044914	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1150G>A; p.G384R; 12:5045297-5045297	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1104C>G; p.Y368*; 12:5045251-5045251	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.929C>T; p.P310L; 12:5045076-5045076	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.506G>A; p.R169Q; 12:5044653-5044653	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1226G>A; p.R409H; 12:5045373-5045373	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.898G>A; p.G300S; 12:5045045-5045045	skin	malignant_melanoma	Substitution - Missense
c.898G>A; p.G300S; 12:5045045-5045045	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.898G>A; p.G300S; 12:5045045-5045045	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.358C>T; p.Q120*; 12:5044505-5044505	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1494G>A; p.S498S; 12:5045641-5045641	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1032C>T; p.F344F; 12:5045179-5045179	stomach	adenocarcinoma	Substitution - coding silent
c.1494G>A; p.S498S; 12:5045641-5045641	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1032C>T; p.F344F; 12:5045179-5045179	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.853C>G; p.P285A; 12:5045000-5045000	skin	malignant_melanoma	Substitution - Missense
c.701G>A; p.R234H; 12:5044848-5044848	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.701G>A; p.R234H; 12:5044848-5044848	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.45C>T; p.T15T; 12:5044192-5044192	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1185C>A; p.S395S; 12:5045332-5045332	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.345G>T; p.A115A; 12:5044492-5044492	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.279C>A; p.P93P; 12:5044426-5044426	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.382G>A; p.G128R; 12:5044529-5044529	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.223G>A; p.V75M; 12:5044370-5044370	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.588C>T; p.F196F; 12:5044735-5044735	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation