Entrez Gene

Basic Information
Gene ID	476
Name	ATP1A1
Synonymous	ATPase, Na+/K+ transporting, alpha 1 polypeptide;ATP1A1;ATPase, Na+/K+ transporting, alpha 1 polypeptide
Definition	Na(+)/K(+) ATPase alpha-1 subunit\|Na+, K+ ATPase alpha subunit\|Na+/K+ ATPase 1\|Na, K-ATPase, alpha-A catalytic polypeptide\|Na,K-ATPase alpha-1 subunit\|Na,K-ATPase catalytic subunit alpha-A protein\|sodium pump 1\|sodium pump subunit alpha-1\|sodium-potassium
Position	1p21
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.689A>C; p.D230A; 1:116388954-116388954	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.118T>G; p.S40A; 1:116384119-116384119	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.326T>G; p.I109S; 1:116387430-116387430	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2188A>C; p.I730L; 1:116398684-116398684	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2294G>A; p.G765D; 1:116398930-116398930	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.759C>T; p.T253T; 1:116389443-116389443	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.887C>T; p.T296M; 1:116389571-116389571	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.759C>T; p.T253T; 1:116389443-116389443	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1153C>T; p.R385W; 1:116390342-116390342	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2740G>A; p.V914M; 1:116401151-116401151	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2755C>T; p.H919Y; 1:116401166-116401166	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.877C>T; p.H293Y; 1:116389561-116389561	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1805C>T; p.A602V; 1:116395254-116395254	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2024C>T; p.S675F; 1:116397938-116397938	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2239G>C; p.D747H; 1:116398735-116398735	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.464C>T; p.S155L; 1:116388207-116388207	prostate	adenoma	Substitution - Missense
c.2918G>A; p.G973E; 1:116401622-116401622	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2532T>G; p.L844L; 1:116399503-116399503	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2089C>T; p.Q697*; 1:116398003-116398003	breast	carcinoma	Substitution - Nonsense
c.2505G>T; p.Q835H; 1:116399476-116399476	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1852G>T; p.G618*; 1:116396613-116396613	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2856G>C; p.K952N; 1:116401560-116401560	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2856G>C; p.K952N; 1:116401560-116401560	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2175G>A; p.L725L; 1:116398671-116398671	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.121A>G; p.M41V; 1:116384122-116384122	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.889G>A; p.G297S; 1:116389573-116389573	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2219A>G; p.D740G; 1:116398715-116398715	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.440_443delCCTA; p.Y148fs*23; 1:116388183-116388186	liver	carcinoma	Deletion - Frameshift
c.2856G>A; p.K952K; 1:116401560-116401560	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.215T>C; p.L72P; 1:116387319-116387319	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.244C>A; p.P82T; 1:116387348-116387348	liver	carcinoma	Substitution - Missense
c.888G>A; p.T296T; 1:116389572-116389572	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.759C>A; p.T253T; 1:116389443-116389443	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.802G>T; p.G268*; 1:116389486-116389486	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.334T>C; p.F112L; 1:116387438-116387438	skin; extremity	malignant_melanoma	Substitution - Missense
c.2152G>A; p.G718S; 1:116398648-116398648	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.998C>T; p.P333L; 1:116389682-116389682	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1866C>G; p.I622M; 1:116396627-116396627	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2725G>T; p.E909*; 1:116401136-116401136	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.505G>A; p.A169T; 1:116388641-116388641	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1423G>A; p.A475T; 1:116392944-116392944	urinary_tract; bladder	carcinoma	Substitution - Missense
c.70delA; p.K25fs*11; 1:116384071-116384071	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1423G>A; p.A475T; 1:116392944-116392944	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.847C>A; p.P283T; 1:116389531-116389531	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1608C>G; p.D536E; 1:116393671-116393671	NS	NS	Substitution - Missense
c.693C>T; p.F231F; 1:116388958-116388958	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.929C>G; p.S310C; 1:116389613-116389613	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1261C>G; p.L421V; 1:116390820-116390820	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2153G>A; p.G718D; 1:116398649-116398649	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1608C>T; p.D536D; 1:116393671-116393671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1542C>T; p.I514I; 1:116393605-116393605	liver	carcinoma	Substitution - coding silent
c.1534G>A; p.E512K; 1:116393597-116393597	breast	carcinoma	Substitution - Missense
c.3007G>A; p.E1003K; 1:116403939-116403939	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.845delC; p.I284fs*46; 1:116389529-116389529	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3035G>A; p.R1012H; 1:116403967-116403967	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.672C>T; p.P224P; 1:116388937-116388937	skin	malignant_melanoma	Substitution - coding silent
c.741C>A; p.T247T; 1:116389006-116389006	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2772C>T; p.V924V; 1:116401183-116401183	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1332+1G>A; p.?; 1:116390892-116390892	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1222+7C>G; p.?; 1:116390418-116390418	stomach	carcinoma; adenocarcinoma	Unknown
c.1553G>A; p.C518Y; 1:116393616-116393616	breast	carcinoma	Substitution - Missense
c.1266C>T; p.S422S; 1:116390825-116390825	skin	malignant_melanoma	Substitution - coding silent
c.1741G>A; p.D581N; 1:116395190-116395190	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1223G>A; p.G408D; 1:116390782-116390782	breast	carcinoma	Substitution - Missense
c.937C>T; p.L313F; 1:116389621-116389621	skin	malignant_melanoma	Substitution - Missense
c.220C>T; p.R74*; 1:116387324-116387324	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1738A>G; p.I580V; 1:116395187-116395187	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.593G>A; p.R198Q; 1:116388729-116388729	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1139C>G; p.T380S; 1:116390328-116390328	ovary	other; neoplasm	Substitution - Missense
c.292delG; p.F100fs*41; 1:116387396-116387396	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2343C>T; p.T781T; 1:116398979-116398979	skin	malignant_melanoma	Substitution - coding silent
c.2015A>G; p.D672G; 1:116397929-116397929	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2323T>C; p.S775P; 1:116398959-116398959	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1188A>C; p.Q396H; 1:116390377-116390377	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2769C>T; p.F923F; 1:116401180-116401180	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2769C>T; p.F923F; 1:116401180-116401180	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2769C>T; p.F923F; 1:116401180-116401180	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1437G>A; p.E479E; 1:116392958-116392958	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2456C>A; p.A819D; 1:116399427-116399427	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2203G>A; p.G735R; 1:116398699-116398699	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1781C>T; p.P594L; 1:116395230-116395230	skin	malignant_melanoma	Substitution - Missense
c.19delC; p.R7fs*29; 1:116384020-116384020	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.2679C>T; p.R893R; 1:116400967-116400967	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.3050T>G; p.V1017G; 1:116404422-116404422	breast	carcinoma	Substitution - Missense
c.1153C>A; p.R385R; 1:116390342-116390342	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.328C>T; p.L110F; 1:116387432-116387432	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1422C>T; p.Y474Y; 1:116392943-116392943	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2457C>T; p.A819A; 1:116399428-116399428	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2087A>G; p.Q696R; 1:116398001-116398001	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.291_292insG; p.F100fs*17; 1:116387395-116387396	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1154G>T; p.R385L; 1:116390343-116390343	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1566C>T; p.L522L; 1:116393629-116393629	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1661-2A>T; p.?; 1:116395108-116395108	lung	carcinoma; adenocarcinoma	Unknown
c.2239G>A; p.D747N; 1:116398735-116398735	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.299_313del15; p.F100_L104delFSMLL; 1:116387403-116387417	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Deletion - In frame
c.299_313del15; p.F100_L104delFSMLL; 1:116387403-116387417	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Deletion - In frame
c.299_313del15; p.F100_L104delFSMLL; 1:116387403-116387417	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Deletion - In frame
c.567delT; p.L190fs*4; 1:116388703-116388703	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.378A>C; p.Q126H; 1:116387482-116387482	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.995T>G; p.V332G; 1:116389679-116389679	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.995T>G; p.V332G; 1:116389679-116389679	thyroid	carcinoma	Substitution - Missense
c.270C>T; p.I90I; 1:116387374-116387374	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2859C>A; p.I953I; 1:116401563-116401563	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2357A>T; p.E786V; 1:116398993-116398993	liver	carcinoma	Substitution - Missense
c.2990_2992delTCA; p.I998delI; 1:116403922-116403924	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.2357A>T; p.E786V; 1:116398993-116398993	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2187C>T; p.D729D; 1:116398683-116398683	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1593T>C; p.D531D; 1:116393656-116393656	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1147C>A; p.Q383K; 1:116390336-116390336	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1528G>A; p.A510T; 1:116393591-116393591	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1398C>T; p.S466S; 1:116392919-116392919	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1301A>G; p.Q434R; 1:116390860-116390860	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1528G>A; p.A510T; 1:116393591-116393591	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2264T>G; p.F755C; 1:116398760-116398760	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.208G>C; p.E70Q; 1:116387312-116387312	breast	carcinoma	Substitution - Missense
c.1992A>T; p.V664V; 1:116397906-116397906	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1154G>A; p.R385Q; 1:116390343-116390343	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.973A>G; p.I325V; 1:116389657-116389657	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2924G>A; p.G975D; 1:116401628-116401628	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2367G>A; p.P789P; 1:116399003-116399003	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.665C>G; p.S222*; 1:116388930-116388930	breast	carcinoma	Substitution - Nonsense
c.665C>G; p.S222*; 1:116388930-116388930	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1206G>A; p.T402T; 1:116390395-116390395	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1206G>A; p.T402T; 1:116390395-116390395	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.903C>T; p.F301F; 1:116389587-116389587	skin	malignant_melanoma	Substitution - coding silent
c.1397C>T; p.S466F; 1:116392918-116392918	skin	malignant_melanoma	Substitution - Missense
c.200G>A; p.R67H; 1:116387304-116387304	prostate	carcinoma	Substitution - Missense
c.3031C>T; p.R1011*; 1:116403963-116403963	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1668C>T; p.C556C; 1:116395117-116395117	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3031C>T; p.R1011*; 1:116403963-116403963	liver	carcinoma	Substitution - Nonsense
c.1339G>C; p.V447L; 1:116392860-116392860	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.1522A>C; p.K508Q; 1:116393585-116393585	breast	carcinoma	Substitution - Missense
c.2175G>T; p.L725F; 1:116398671-116398671	breast	carcinoma	Substitution - Missense
c.2365C>T; p.P789S; 1:116399001-116399001	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2446A>G; p.M816V; 1:116399082-116399082	liver	carcinoma	Substitution - Missense
c.2446A>G; p.M816V; 1:116399082-116399082	liver	carcinoma	Substitution - Missense
c.311T>G; p.L104R; 1:116387415-116387415	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.323C>T; p.A108V; 1:116387427-116387427	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.323C>T; p.A108V; 1:116387427-116387427	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.311T>G; p.L104R; 1:116387415-116387415	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.311T>G; p.L104R; 1:116387415-116387415	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.311T>G; p.L104R; 1:116387415-116387415	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.1821A>T; p.R607R; 1:116395270-116395270	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.311T>G; p.L104R; 1:116387415-116387415	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.311T>G; p.L104R; 1:116387415-116387415	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.311T>G; p.L104R; 1:116387415-116387415	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.311T>G; p.L104R; 1:116387415-116387415	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.311T>G; p.L104R; 1:116387415-116387415	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.311T>G; p.L104R; 1:116387415-116387415	adrenal_gland; adrenal_gland	adrenal_cortical_hyperplasia; aldosterone_producing	Substitution - Missense
c.311T>G; p.L104R; 1:116387415-116387415	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.311T>G; p.L104R; 1:116387415-116387415	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.311T>G; p.L104R; 1:116387415-116387415	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.311T>G; p.L104R; 1:116387415-116387415	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.311T>G; p.L104R; 1:116387415-116387415	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.311T>G; p.L104R; 1:116387415-116387415	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.311T>G; p.L104R; 1:116387415-116387415	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.311T>G; p.L104R; 1:116387415-116387415	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.311T>G; p.L104R; 1:116387415-116387415	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.311T>G; p.L104R; 1:116387415-116387415	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.1793C>T; p.A598V; 1:116395242-116395242	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2236G>A; p.A746T; 1:116398732-116398732	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3015delA; p.K1006fs*>18; 1:116403947-116403947	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.219G>A; p.A73A; 1:116387323-116387323	thyroid	carcinoma	Substitution - coding silent
c.2997C>A; p.F999L; 1:116403929-116403929	urinary_tract; bladder	carcinoma	Substitution - Missense
c.295G>A; p.G99R; 1:116387399-116387399	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.2999T>C; p.V1000A; 1:116403931-116403931	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2304C>A; p.I768I; 1:116398940-116398940	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1820G>A; p.R607Q; 1:116395269-116395269	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1820G>A; p.R607Q; 1:116395269-116395269	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1989C>T; p.C663C; 1:116397903-116397903	NS	NS	Substitution - coding silent
c.2814G>T; p.K938N; 1:116401225-116401225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1661G>T; p.G554V; 1:116395110-116395110	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3043G>A; p.G1015S; 1:116403975-116403975	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1412G>A; p.R471K; 1:116392933-116392933	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2266G>A; p.A756T; 1:116398762-116398762	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3042C>T; p.G1014G; 1:116403974-116403974	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.108G>T; p.K36N; 1:116384109-116384109	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1285A>G; p.N429D; 1:116390844-116390844	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.461G>T; p.S154I; 1:116388204-116388204	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1410G>A; p.M470I; 1:116392931-116392931	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1194T>C; p.H398H; 1:116390383-116390383	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2450T>C; p.V817A; 1:116399421-116399421	breast	carcinoma	Substitution - Missense
c.2022C>G; p.T674T; 1:116397936-116397936	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1194T>C; p.H398H; 1:116390383-116390383	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1511T>C; p.L504P; 1:116393574-116393574	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2719-1G>C; p.?; 1:116401129-116401129	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Unknown
c.2719-1G>C; p.?; 1:116401129-116401129	upper_aerodigestive_tract; mouth	carcinoma	Unknown
c.2000G>A; p.G667D; 1:116397914-116397914	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.386A>T; p.N129I; 1:116387490-116387490	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2836C>T; p.Q946*; 1:116401247-116401247	skin	malignant_melanoma	Substitution - Nonsense

COSMIC somatic mutation [Top]