Entrez Gene

Basic Information
Gene ID	586
Name	BCAT1
Synonymous	branched chain amino-acid transaminase 1, cytosolic;BCAT1;branched chain amino-acid transaminase 1, cytosolic
Definition	branched chain aminotransferase 1, cytosolic\|branched-chain-amino-acid aminotransferase, cytosolic\|placental protein 18
Position	12p12.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.985T>A; p.F329I; 12:24832782-24832782	prostate	carcinoma	Substitution - Missense
c.851T>G; p.I284S; 12:24836563-24836563	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.711A>C; p.A237A; 12:24842188-24842188	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1003T>C; p.C335R; 12:24832764-24832764	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2T>C; p.M1T; 12:24948931-24948931	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1091G>A; p.R364H; 12:24829851-24829851	breast	carcinoma	Substitution - Missense
c.1091G>A; p.R364H; 12:24829851-24829851	breast	carcinoma	Substitution - Missense
c.65T>C; p.V22A; 12:24901827-24901827	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.14G>A; p.S5N; 12:24901878-24901878	ovary	other; neoplasm	Substitution - Missense
c.548T>C; p.L183P; 12:24849912-24849912	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.G17R; 12:24901843-24901843	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.966G>A; p.G322G; 12:24832801-24832801	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.508G>A; p.E170K; 12:24878532-24878532	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.161C>T; p.T54M; 12:24894393-24894393	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1090C>T; p.R364C; 12:24829852-24829852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.176C>T; p.T59M; 12:24894378-24894378	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.176C>T; p.T59M; 12:24894378-24894378	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.40G>A; p.G14R; 12:24901852-24901852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.847G>A; p.G283S; 12:24836567-24836567	skin	malignant_melanoma	Substitution - Missense
c.162G>A; p.T54T; 12:24894392-24894392	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.162G>A; p.T54T; 12:24894392-24894392	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.293T>A; p.L98*; 12:24881398-24881398	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.323T>C; p.I108T; 12:24881368-24881368	skin	malignant_melanoma	Substitution - Missense
c.261T>G; p.A87A; 12:24894293-24894293	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.580T>G; p.F194V; 12:24849880-24849880	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1129G>C; p.E377Q; 12:24818040-24818040	skin	malignant_melanoma	Substitution - Missense
c.322A>T; p.I108F; 12:24881369-24881369	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.957C>T; p.A319A; 12:24832810-24832810	skin	malignant_melanoma	Substitution - coding silent
c.1052A>G; p.H351R; 12:24829890-24829890	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.50G>A; p.G17E; 12:24901842-24901842	skin	malignant_melanoma	Substitution - Missense
c.622C>A; p.P208T; 12:24849838-24849838	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.502G>A; p.G168R; 12:24878538-24878538	skin	malignant_melanoma	Substitution - Missense
c.823G>T; p.E275*; 12:24836591-24836591	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.654T>A; p.T218T; 12:24849806-24849806	liver	carcinoma	Substitution - coding silent
c.654T>A; p.T218T; 12:24849806-24849806	liver	carcinoma	Substitution - coding silent
c.965G>A; p.G322E; 12:24832802-24832802	skin	malignant_melanoma	Substitution - Missense
c.965G>A; p.G322E; 12:24832802-24832802	skin	malignant_melanoma	Substitution - Missense
c.615G>T; p.W205C; 12:24849845-24849845	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.852C>T; p.I284I; 12:24836562-24836562	skin	malignant_melanoma	Substitution - coding silent
c.584C>T; p.S195L; 12:24849876-24849876	skin	malignant_melanoma	Substitution - Missense
c.1067A>G; p.E356G; 12:24829875-24829875	liver	carcinoma	Substitution - Missense
c.1067A>G; p.E356G; 12:24829875-24829875	liver	carcinoma	Substitution - Missense
c.1067A>G; p.E356G; 12:24829875-24829875	liver	carcinoma	Substitution - Missense
c.147_148TG>CT; p.G50*; 12:24894406-24894407	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1151T>C; p.V384A; 12:24818018-24818018	breast	carcinoma	Substitution - Missense
c.487C>T; p.R163C; 12:24878553-24878553	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.541G>A; p.A181T; 12:24849919-24849919	liver	carcinoma	Substitution - Missense
c.487C>T; p.R163C; 12:24878553-24878553	urinary_tract; bladder	carcinoma	Substitution - Missense
c.487C>T; p.R163C; 12:24878553-24878553	skin	malignant_melanoma	Substitution - Missense
c.53C>T; p.S18L; 12:24901839-24901839	breast	carcinoma	Substitution - Missense
c.235C>T; p.L79L; 12:24894319-24894319	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.189C>G; p.S63S; 12:24894365-24894365	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.653C>T; p.T218I; 12:24849807-24849807	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.279+4delA; p.?; 12:24894271-24894271	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.89T>C; p.L30P; 12:24894465-24894465	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.457C>T; p.P153S; 12:24878583-24878583	skin	malignant_melanoma	Substitution - Missense
c.892G>A; p.A298T; 12:24836522-24836522	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.779C>G; p.T260S; 12:24842120-24842120	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.507T>C; p.T169T; 12:24878533-24878533	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1158C>T; p.S386S; 12:24818011-24818011	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.666G>T; p.K222N; 12:24849794-24849794	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1138G>A; p.D380N; 12:24818031-24818031	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.64G>A; p.V22M; 12:24901828-24901828	liver	carcinoma	Substitution - Missense
c.64G>A; p.V22M; 12:24901828-24901828	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.64G>A; p.V22M; 12:24901828-24901828	liver	carcinoma	Substitution - Missense
c.422T>C; p.I141T; 12:24878618-24878618	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.839C>T; p.P280L; 12:24836575-24836575	breast	carcinoma	Substitution - Missense
c.1150G>T; p.V384L; 12:24818019-24818019	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.79-5C>T; p.?; 12:24894480-24894480	prostate	carcinoma	Unknown
c.363T>A; p.Y121*; 12:24881328-24881328	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.590G>A; p.G197E; 12:24849870-24849870	skin	malignant_melanoma	Substitution - Missense
c.883C>T; p.L295L; 12:24836531-24836531	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.823_825delGAA; p.E275delE; 12:24836589-24836591	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.823_825delGAA; p.E275delE; 12:24836589-24836591	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Deletion - In frame
c.823_825delGAA; p.E275delE; 12:24836589-24836591	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.39C>T; p.T13T; 12:24901853-24901853	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.823_825delGAA; p.E275delE; 12:24836589-24836591	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.540A>C; p.K180N; 12:24849920-24849920	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.391G>A; p.V131I; 12:24878649-24878649	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.953C>A; p.T318K; 12:24832814-24832814	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.527A>C; p.K176T; 12:24849933-24849933	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.674+2T>C; p.?; 12:24849784-24849784	stomach	carcinoma; adenocarcinoma	Unknown
c.320A>C; p.K107T; 12:24881371-24881371	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.689C>T; p.S230F; 12:24842210-24842210	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.219C>A; p.I73I; 12:24894335-24894335	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.693T>G; p.L231L; 12:24842206-24842206	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1137C>T; p.S379S; 12:24818032-24818032	breast	carcinoma	Substitution - coding silent
c.1046C>A; p.T349K; 12:24829896-24829896	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.243G>T; p.L81F; 12:24894311-24894311	pancreas	carcinoma	Substitution - Missense
c.488G>A; p.R163H; 12:24878552-24878552	breast	carcinoma	Substitution - Missense
c.59A>C; p.E20A; 12:24901833-24901833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.304C>T; p.R102*; 12:24881387-24881387	skin	malignant_melanoma	Substitution - Nonsense
c.196T>G; p.F66V; 12:24894358-24894358	pancreas	carcinoma	Substitution - Missense
c.196T>G; p.F66V; 12:24894358-24894358	pancreas	carcinoma	Substitution - Missense
c.1129G>T; p.E377*; 12:24818040-24818040	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.254C>T; p.S85L; 12:24894300-24894300	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.848G>A; p.G283D; 12:24836566-24836566	skin	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]