Entrez Gene

Basic Information
Gene ID	321
Name	APBA2
Synonymous	amyloid beta (A4) precursor protein-binding, family A, member 2;APBA2;amyloid beta (A4) precursor protein-binding, family A, member 2
Definition	X11-like protein\|adapter protein X11beta\|amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)\|amyloid beta A4 precursor protein-binding family A member 2\|mint-2\|neuron-specific X11L protein\|neuronal munc18-1-interacting protein 2\|pho
Position	15q11-q12
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.460G>T; p.A154S; 15:29054344-29054344	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1427C>A; p.P476H; 15:29101687-29101687	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1460C>T; p.T487M; 15:29101720-29101720	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2037+1G>T; p.?; 15:29108390-29108390	liver	carcinoma	Unknown
c.2037+1G>T; p.?; 15:29108390-29108390	liver	carcinoma	Unknown
c.1586G>A; p.R529Q; 15:29105440-29105440	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.410C>T; p.A137V; 15:29054294-29054294	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.257A>G; p.Y86C; 15:29054141-29054141	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.574G>T; p.G192C; 15:29054458-29054458	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1044G>A; p.V348V; 15:29076066-29076066	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1976C>T; p.T659M; 15:29108328-29108328	pancreas	carcinoma	Substitution - Missense
c.1759G>A; p.G587S; 15:29106661-29106661	skin	malignant_melanoma	Substitution - Missense
c.1576G>T; p.E526*; 15:29105430-29105430	breast	carcinoma	Substitution - Nonsense
c.593C>T; p.P198L; 15:29054477-29054477	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3G>A; p.M1I; 15:29053887-29053887	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.735C>T; p.A245A; 15:29054619-29054619	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2122G>A; p.V708M; 15:29113960-29113960	liver	carcinoma	Substitution - Missense
c.1250C>T; p.A417V; 15:29094312-29094312	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2122G>A; p.V708M; 15:29113960-29113960	liver	carcinoma	Substitution - Missense
c.1250C>T; p.A417V; 15:29094312-29094312	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.712A>T; p.S238C; 15:29054596-29054596	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.135C>T; p.G45G; 15:29054019-29054019	breast	carcinoma	Substitution - coding silent
c.989G>A; p.R330H; 15:29074958-29074958	breast	carcinoma	Substitution - Missense
c.267C>A; p.G89G; 15:29054151-29054151	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.266G>A; p.G89D; 15:29054150-29054150	soft_tissue; striated_muscle	rhabdomyosarcoma; alveolar	Substitution - Missense
c.1347G>T; p.M449I; 15:29101607-29101607	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.977G>T; p.R326M; 15:29074946-29074946	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.684G>T; p.Q228H; 15:29054568-29054568	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.631C>T; p.R211C; 15:29054515-29054515	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.376G>T; p.A126S; 15:29054260-29054260	skin	malignant_melanoma	Substitution - Missense
c.1190C>T; p.A397V; 15:29093195-29093195	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1190C>T; p.A397V; 15:29093195-29093195	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.640C>T; p.R214C; 15:29054524-29054524	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1281G>A; p.T427T; 15:29098519-29098519	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - coding silent
c.1281G>A; p.T427T; 15:29098519-29098519	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.347G>A; p.C116Y; 15:29054231-29054231	NS	NS	Substitution - Missense
c.24C>T; p.S8S; 15:29053908-29053908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1014C>T; p.D338D; 15:29074983-29074983	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2050A>T; p.M684L; 15:29113888-29113888	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.24C>T; p.S8S; 15:29053908-29053908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.760C>A; p.P254T; 15:29054644-29054644	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1383C>T; p.A461A; 15:29101643-29101643	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2004G>A; p.K668K; 15:29108356-29108356	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.152T>C; p.L51P; 15:29054036-29054036	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.672G>A; p.E224E; 15:29054556-29054556	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1240A>G; p.K414E; 15:29094302-29094302	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.273T>A; p.P91P; 15:29054157-29054157	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.314C>A; p.P105H; 15:29054198-29054198	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1288G>T; p.D430Y; 15:29098526-29098526	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1698_1699delCA; p.C566fs*1; 15:29105552-29105553	breast	carcinoma	Deletion - Frameshift
c.358G>T; p.E120*; 15:29054242-29054242	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1057A>G; p.S353G; 15:29076079-29076079	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1550G>A; p.G517D; 15:29105404-29105404	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2054G>A; p.R685K; 15:29113892-29113892	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.967G>T; p.E323*; 15:29074936-29074936	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.426G>A; p.T142T; 15:29054310-29054310	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1093G>T; p.D365Y; 15:29093098-29093098	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2022C>T; p.S674S; 15:29108374-29108374	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.518C>T; p.S173F; 15:29054402-29054402	skin	malignant_melanoma	Substitution - Missense
c.837G>A; p.A279A; 15:29054721-29054721	oesophagus	carcinoma	Substitution - coding silent
c.431C>T; p.S144L; 15:29054315-29054315	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2168C>T; p.S723L; 15:29114006-29114006	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.842C>A; p.P281H; 15:29054726-29054726	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1136C>T; p.S379F; 15:29093141-29093141	skin	malignant_melanoma	Substitution - Missense
c.616G>A; p.G206S; 15:29054500-29054500	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.616G>A; p.G206S; 15:29054500-29054500	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1566G>T; p.V522V; 15:29105420-29105420	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.754C>T; p.H252Y; 15:29054638-29054638	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2095C>T; p.R699C; 15:29113933-29113933	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2095C>T; p.R699C; 15:29113933-29113933	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1740C>T; p.G580G; 15:29106642-29106642	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2032G>A; p.G678R; 15:29108384-29108384	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1740C>T; p.G580G; 15:29106642-29106642	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.204C>T; p.P68P; 15:29054088-29054088	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1554G>A; p.Q518Q; 15:29105408-29105408	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1215_1215+1GG>AA; p.?; 15:29093220-29093221	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2083C>T; p.R695C; 15:29113921-29113921	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.945C>G; p.H315Q; 15:29054829-29054829	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.168C>T; p.P56P; 15:29054052-29054052	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.558C>T; p.Y186Y; 15:29054442-29054442	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1827G>T; p.S609S; 15:29106729-29106729	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.541G>A; p.E181K; 15:29054425-29054425	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1462C>T; p.P488S; 15:29101722-29101722	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.934A>G; p.K312E; 15:29054818-29054818	breast	carcinoma	Substitution - Missense
c.343G>T; p.D115Y; 15:29054227-29054227	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.880delG; p.G294fs*18; 15:29054764-29054764	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.540G>A; p.Q180Q; 15:29054424-29054424	skin	malignant_melanoma	Substitution - coding silent
c.540G>T; p.Q180H; 15:29054424-29054424	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1747G>A; p.V583M; 15:29106649-29106649	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1353C>T; p.D451D; 15:29101613-29101613	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1512C>T; p.F504F; 15:29101772-29101772	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1512C>T; p.F504F; 15:29101772-29101772	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1144C>T; p.L382L; 15:29093149-29093149	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1512C>T; p.F504F; 15:29101772-29101772	pancreas	carcinoma	Substitution - coding silent
c.2052G>C; p.M684I; 15:29113890-29113890	breast	carcinoma	Substitution - Missense
c.287G>T; p.G96V; 15:29054171-29054171	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.595G>A; p.E199K; 15:29054479-29054479	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1091A>T; p.E364V; 15:29093096-29093096	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.489C>T; p.G163G; 15:29054373-29054373	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2074delG; p.G693fs*24; 15:29113912-29113912	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.521T>A; p.V174D; 15:29054405-29054405	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.597G>A; p.E199E; 15:29054481-29054481	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1872C>A; p.T624T; 15:29106774-29106774	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1868G>T; p.G623V; 15:29106770-29106770	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1868G>T; p.G623V; 15:29106770-29106770	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Substitution - Missense
c.2234C>T; p.T745I; 15:29117117-29117117	skin; mucosal	malignant_melanoma	Substitution - Missense
c.447C>T; p.P149P; 15:29054331-29054331	skin	malignant_melanoma	Substitution - coding silent
c.1200C>T; p.A400A; 15:29093205-29093205	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.170C>T; p.A57V; 15:29054054-29054054	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.11G>A; p.R4Q; 15:29053895-29053895	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.657G>A; p.L219L; 15:29054541-29054541	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.170C>T; p.A57V; 15:29054054-29054054	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.170C>T; p.A57V; 15:29054054-29054054	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.449A>C; p.H150P; 15:29054333-29054333	urinary_tract; bladder	carcinoma	Substitution - Missense
c.449A>C; p.H150P; 15:29054333-29054333	urinary_tract; bladder	carcinoma	Substitution - Missense
c.848C>T; p.S283L; 15:29054732-29054732	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.280G>A; p.E94K; 15:29054164-29054164	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.978G>A; p.R326R; 15:29074947-29074947	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.848C>T; p.S283L; 15:29054732-29054732	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1815G>A; p.P605P; 15:29106717-29106717	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1399G>T; p.V467L; 15:29101659-29101659	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1650G>T; p.Q550H; 15:29105504-29105504	liver	carcinoma	Substitution - Missense
c.2128G>A; p.A710T; 15:29113966-29113966	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1650G>T; p.Q550H; 15:29105504-29105504	liver	carcinoma	Substitution - Missense
c.932T>C; p.L311P; 15:29054816-29054816	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.864C>T; p.P288P; 15:29054748-29054748	pancreas	carcinoma	Substitution - coding silent
c.1263G>T; p.G421G; 15:29098501-29098501	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.864C>T; p.P288P; 15:29054748-29054748	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2113G>A; p.G705R; 15:29113951-29113951	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1418G>C; p.R473P; 15:29101678-29101678	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.717G>A; p.M239I; 15:29054601-29054601	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.322G>A; p.D108N; 15:29054206-29054206	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.166C>A; p.P56T; 15:29054050-29054050	liver	carcinoma	Substitution - Missense
c.592C>A; p.P198T; 15:29054476-29054476	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.166C>A; p.P56T; 15:29054050-29054050	liver	carcinoma	Substitution - Missense
c.1537G>A; p.A513T; 15:29105391-29105391	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.732C>T; p.S244S; 15:29054616-29054616	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1537G>A; p.A513T; 15:29105391-29105391	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1823G>A; p.R608H; 15:29106725-29106725	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1823G>A; p.R608H; 15:29106725-29106725	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2104G>A; p.E702K; 15:29113942-29113942	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1083C>A; p.C361*; 15:29093088-29093088	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1616G>A; p.S539N; 15:29105470-29105470	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1782G>A; p.T594T; 15:29106684-29106684	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.618C>T; p.G206G; 15:29054502-29054502	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1461G>A; p.T487T; 15:29101721-29101721	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2238G>A; p.P746P; 15:29117121-29117121	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2084G>T; p.R695L; 15:29113922-29113922	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1407G>A; p.L469L; 15:29101667-29101667	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2084G>T; p.R695L; 15:29113922-29113922	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.201C>T; p.S67S; 15:29054085-29054085	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.306C>T; p.R102R; 15:29054190-29054190	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.830A>G; p.H277R; 15:29054714-29054714	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.411G>A; p.A137A; 15:29054295-29054295	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2080G>A; p.V694I; 15:29113918-29113918	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1506T>C; p.H502H; 15:29101766-29101766	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1125_1126TT>CA; p.Y376N; 15:29093130-29093131	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.213C>T; p.D71D; 15:29054097-29054097	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1007C>A; p.P336H; 15:29074976-29074976	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.406G>C; p.E136Q; 15:29054290-29054290	skin	malignant_melanoma	Substitution - Missense
c.776A>G; p.E259G; 15:29054660-29054660	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.268C>T; p.L90F; 15:29054152-29054152	skin	malignant_melanoma	Substitution - Missense
c.321C>T; p.D107D; 15:29054205-29054205	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2168C>A; p.S723*; 15:29114006-29114006	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.321C>T; p.D107D; 15:29054205-29054205	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1705-2A>G; p.?; 15:29106605-29106605	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1850A>T; p.Q617L; 15:29106752-29106752	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.486C>T; p.D162D; 15:29054370-29054370	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1521G>T; p.E507D; 15:29101781-29101781	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.607G>A; p.G203R; 15:29054491-29054491	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.607G>A; p.G203R; 15:29054491-29054491	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.72T>A; p.P24P; 15:29053956-29053956	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2023G>A; p.V675M; 15:29108375-29108375	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.94G>A; p.E32K; 15:29053978-29053978	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.305G>A; p.R102H; 15:29054189-29054189	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2023G>A; p.V675M; 15:29108375-29108375	liver	carcinoma	Substitution - Missense
c.2023G>A; p.V675M; 15:29108375-29108375	liver	carcinoma	Substitution - Missense
c.280G>T; p.E94*; 15:29054164-29054164	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Nonsense
c.1364G>A; p.R455H; 15:29101624-29101624	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1364G>A; p.R455H; 15:29101624-29101624	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.865G>C; p.E289Q; 15:29054749-29054749	breast	carcinoma	Substitution - Missense
c.119G>A; p.G40D; 15:29054003-29054003	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1556C>T; p.A519V; 15:29105410-29105410	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.228C>T; p.Y76Y; 15:29054112-29054112	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.133G>T; p.G45C; 15:29054017-29054017	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1058G>A; p.S353N; 15:29076080-29076080	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1814C>T; p.P605L; 15:29106716-29106716	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.228C>T; p.Y76Y; 15:29054112-29054112	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.503C>T; p.P168L; 15:29054387-29054387	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.2125G>T; p.V709L; 15:29113963-29113963	prostate	adenoma	Substitution - Missense
c.503C>T; p.P168L; 15:29054387-29054387	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.503C>T; p.P168L; 15:29054387-29054387	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.836C>T; p.A279V; 15:29054720-29054720	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1621A>G; p.K541E; 15:29105475-29105475	breast	carcinoma	Substitution - Missense
c.770G>A; p.G257E; 15:29054654-29054654	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1334C>T; p.T445M; 15:29098572-29098572	central_nervous_system; brain	glioma	Substitution - Missense
c.1218G>T; p.R406S; 15:29094280-29094280	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.619G>A; p.A207T; 15:29054503-29054503	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.687C>T; p.I229I; 15:29054571-29054571	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2096G>A; p.R699H; 15:29113934-29113934	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1421G>A; p.R474H; 15:29101681-29101681	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1182G>A; p.M394I; 15:29093187-29093187	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1208G>C; p.R403P; 15:29093213-29093213	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1084G>A; p.E362K; 15:29093089-29093089	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.487G>A; p.G163S; 15:29054371-29054371	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1102G>A; p.D368N; 15:29093107-29093107	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2033G>C; p.G678A; 15:29108385-29108385	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.632G>A; p.R211H; 15:29054516-29054516	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.165delC; p.A57fs*21; 15:29054049-29054049	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.93C>T; p.S31S; 15:29053977-29053977	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.588C>A; p.Y196*; 15:29054472-29054472	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.274G>A; p.E92K; 15:29054158-29054158	breast	carcinoma	Substitution - Missense
c.282G>C; p.E94D; 15:29054166-29054166	skin	malignant_melanoma	Substitution - Missense
c.1595G>A; p.G532D; 15:29105449-29105449	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2240T>C; p.L747P; 15:29117123-29117123	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2203G>A; p.A735T; 15:29117086-29117086	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.865G>A; p.E289K; 15:29054749-29054749	breast	carcinoma	Substitution - Missense
c.524T>C; p.L175P; 15:29054408-29054408	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.97G>A; p.D33N; 15:29053981-29053981	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.97G>A; p.D33N; 15:29053981-29053981	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.641G>A; p.R214H; 15:29054525-29054525	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1205G>T; p.S402I; 15:29093210-29093210	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.641G>A; p.R214H; 15:29054525-29054525	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.284A>G; p.E95G; 15:29054168-29054168	urinary_tract; bladder	carcinoma	Substitution - Missense
c.64C>T; p.P22S; 15:29053948-29053948	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.284A>G; p.E95G; 15:29054168-29054168	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.946G>C; p.E316Q; 15:29054830-29054830	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.946G>C; p.E316Q; 15:29054830-29054830	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1741G>A; p.V581M; 15:29106643-29106643	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1591A>G; p.N531D; 15:29105445-29105445	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1296C>T; p.F432F; 15:29098534-29098534	skin	malignant_melanoma	Substitution - coding silent
c.1280C>T; p.T427M; 15:29098518-29098518	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.435G>A; p.A145A; 15:29054319-29054319	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.766C>T; p.P256S; 15:29054650-29054650	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - Missense
c.1191G>T; p.A397A; 15:29093196-29093196	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1765G>T; p.G589C; 15:29106667-29106667	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1524+2T>A; p.?; 15:29101786-29101786	pancreas	carcinoma	Unknown
c.267C>T; p.G89G; 15:29054151-29054151	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1311G>A; p.R437R; 15:29098549-29098549	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1948A>G; p.N650D; 15:29108300-29108300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.988C>T; p.R330C; 15:29074957-29074957	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.351C>T; p.N117N; 15:29054235-29054235	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.351C>T; p.N117N; 15:29054235-29054235	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.918C>T; p.T306T; 15:29054802-29054802	skin	malignant_melanoma	Substitution - coding silent
c.271C>T; p.P91S; 15:29054155-29054155	skin	malignant_melanoma	Substitution - Missense
c.1767C>T; p.G589G; 15:29106669-29106669	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2082C>T; p.V694V; 15:29113920-29113920	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.259G>T; p.D87Y; 15:29054143-29054143	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.658G>A; p.E220K; 15:29054542-29054542	lung	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]