Entrez Gene

Basic Information
Gene ID	875
Name	CBS
Synonymous	cystathionine-beta-synthase;CBS;cystathionine-beta-synthase
Definition	beta-thionase\|cystathionine beta-synthase\|methylcysteine synthase\|serine sulfhydrase
Position	21q22.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.129G>A; p.W43*; 21:43072065-43072065	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1039G>A; p.G347S; 21:43062311-43062311	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.152G>A; p.R51K; 21:43072042-43072042	skin	malignant_melanoma	Substitution - Missense
c.1626C>T; p.F542F; 21:43053910-43053910	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1329C>T; p.F443F; 21:43058863-43058863	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.362G>A; p.R121H; 21:43066332-43066332	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1283C>T; p.T428I; 21:43058909-43058909	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.619G>A; p.A207T; 21:43065434-43065434	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.352G>A; p.V118M; 21:43066342-43066342	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1609A>G; p.I537V; 21:43053927-43053927	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1137G>A; p.R379R; 21:43060449-43060449	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.850G>T; p.G284W; 21:43063057-43063057	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1012C>A; p.L338M; 21:43062338-43062338	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.670C>T; p.R224C; 21:43065269-43065269	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.339C>T; p.N113N; 21:43066355-43066355	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.899C>G; p.T300S; 21:43063008-43063008	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.457G>A; p.G153R; 21:43065690-43065690	skin	malignant_melanoma	Substitution - Missense
c.1524C>T; p.F508F; 21:43056831-43056831	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1524C>T; p.F508F; 21:43056831-43056831	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1038C>A; p.C346*; 21:43062312-43062312	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1355C>T; p.A452V; 21:43058837-43058837	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1520A>G; p.H507R; 21:43056835-43056835	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1485G>A; p.T495T; 21:43056870-43056870	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.450C>T; p.T150T; 21:43066244-43066244	pancreas	carcinoma	Substitution - coding silent
c.596C>T; p.S199F; 21:43065457-43065457	skin	malignant_melanoma	Substitution - Missense
c.297C>T; p.F99F; 21:43068528-43068528	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.243G>A; p.L81L; 21:43068582-43068582	skin	malignant_melanoma	Substitution - coding silent
c.297C>T; p.F99F; 21:43068528-43068528	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.297C>T; p.F99F; 21:43068528-43068528	breast	carcinoma	Substitution - coding silent
c.297C>T; p.F99F; 21:43068528-43068528	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1300A>C; p.T434P; 21:43058892-43058892	skin; neck	malignant_melanoma	Substitution - Missense
c.1326C>T; p.G442G; 21:43058866-43058866	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.297C>T; p.F99F; 21:43068528-43068528	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.642C>T; p.I214I; 21:43065411-43065411	skin	malignant_melanoma	Substitution - coding silent
c.1306G>A; p.E436K; 21:43058886-43058886	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.626G>A; p.R209Q; 21:43065427-43065427	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1018G>A; p.A340T; 21:43062332-43062332	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.861C>T; p.L287L; 21:43063046-43063046	skin	malignant_melanoma	Substitution - coding silent
c.316+2T>C; p.?; 21:43068507-43068507	stomach	carcinoma; adenocarcinoma	Unknown
c.1080C>T; p.A360A; 21:43060506-43060506	thyroid	other; neoplasm	Substitution - coding silent
c.1080C>T; p.A360A; 21:43060506-43060506	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1080C>T; p.A360A; 21:43060506-43060506	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.625C>T; p.R209W; 21:43065428-43065428	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1071C>T; p.A357A; 21:43060515-43060515	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1365C>T; p.I455I; 21:43058247-43058247	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.542T>C; p.L181P; 21:43065511-43065511	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.699C>T; p.Y233Y; 21:43065240-43065240	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.699C>T; p.Y233Y; 21:43065240-43065240	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.699C>T; p.Y233Y; 21:43065240-43065240	thyroid	other; neoplasm	Substitution - coding silent
c.1299C>G; p.H433Q; 21:43058893-43058893	skin; neck	malignant_melanoma	Substitution - Missense
c.1027G>A; p.G343R; 21:43062323-43062323	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1379C>T; p.T460M; 21:43058233-43058233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Substitution - Missense
c.847G>A; p.E283K; 21:43063060-43063060	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.209+1G>A; p.?; 21:43071984-43071984	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.1633G>A; p.A545T; 21:43053903-43053903	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.924C>T; p.Y308Y; 21:43062983-43062983	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1290C>T; p.T430T; 21:43058902-43058902	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.919G>A; p.G307S; 21:43062988-43062988	breast	carcinoma	Substitution - Missense
c.1069G>A; p.A357T; 21:43060517-43060517	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1237C>T; p.R413C; 21:43058955-43058955	skin	malignant_melanoma	Substitution - Missense
c.393G>T; p.E131D; 21:43066301-43066301	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1479G>A; p.T493T; 21:43056876-43056876	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1177C>A; p.Q393K; 21:43059272-43059272	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.633G>A; p.K211K; 21:43065420-43065420	breast	carcinoma	Substitution - coding silent
c.573G>A; p.T191T; 21:43065480-43065480	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1632C>T; p.A544A; 21:43053904-43053904	pancreas	carcinoma	Substitution - coding silent
c.1449C>G; p.I483M; 21:43058163-43058163	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1449C>G; p.I483M; 21:43058163-43058163	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.252C>T; p.I84I; 21:43068573-43068573	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.252C>T; p.I84I; 21:43068573-43068573	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.318G>T; p.L106F; 21:43066376-43066376	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.81C>T; p.S27S; 21:43072113-43072113	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1402C>T; p.L468L; 21:43058210-43058210	skin	malignant_melanoma	Substitution - coding silent
c.263C>T; p.P88L; 21:43068562-43068562	skin	malignant_melanoma	Substitution - Missense
c.637G>A; p.E213K; 21:43065416-43065416	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.641T>A; p.I214N; 21:43065412-43065412	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.641T>A; p.I214N; 21:43065412-43065412	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.637G>A; p.E213K; 21:43065416-43065416	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.858_859CC>TT; p.L287F; 21:43063048-43063049	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.594C>A; p.D198E; 21:43065459-43065459	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.75G>T; p.K25N; 21:43072119-43072119	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.997A>G; p.T333A; 21:43062353-43062353	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1553-1G>T; p.?; 21:43053984-43053984	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1162G>A; p.D388N; 21:43059287-43059287	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.145C>T; p.P49S; 21:43072049-43072049	skin	malignant_melanoma	Substitution - Missense
c.1412G>A; p.G471E; 21:43058200-43058200	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1315C>T; p.R439W; 21:43058877-43058877	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.52C>T; p.R18C; 21:43072142-43072142	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.700G>A; p.D234N; 21:43065239-43065239	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1015A>T; p.I339F; 21:43062335-43062335	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1525G>A; p.A509T; 21:43056830-43056830	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1525G>A; p.A509T; 21:43056830-43056830	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1525G>A; p.A509T; 21:43056830-43056830	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.490C>T; p.R164C; 21:43065657-43065657	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.453G>A; p.G151G; 21:43065694-43065694	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.663C>T; p.D221D; 21:43065390-43065390	skin	malignant_melanoma	Substitution - coding silent
c.128G>A; p.W43*; 21:43072066-43072066	skin	malignant_melanoma	Substitution - Nonsense
c.71C>T; p.A24V; 21:43072123-43072123	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.71C>T; p.A24V; 21:43072123-43072123	pancreas	carcinoma	Substitution - Missense
c.312G>T; p.E104D; 21:43068513-43068513	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.312G>T; p.E104D; 21:43068513-43068513	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.385G>A; p.D129N; 21:43066309-43066309	skin	malignant_melanoma	Substitution - Missense
c.312G>T; p.E104D; 21:43068513-43068513	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1296G>A; p.G432G; 21:43058896-43058896	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1296G>A; p.G432G; 21:43058896-43058896	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.341C>T; p.A114V; 21:43066353-43066353	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1295G>A; p.G432E; 21:43058897-43058897	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.429C>T; p.I143I; 21:43066265-43066265	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.257A>G; p.D86G; 21:43068568-43068568	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1185C>A; p.G395G; 21:43059264-43059264	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.782T>C; p.I261T; 21:43063946-43063946	ovary	other; neoplasm	Substitution - Missense
c.874G>A; p.E292K; 21:43063033-43063033	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.709G>A; p.A237T; 21:43065230-43065230	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1160G>A; p.S387N; 21:43059289-43059289	breast	carcinoma	Substitution - Missense
c.1017C>T; p.I339I; 21:43062333-43062333	skin	malignant_melanoma	Substitution - coding silent
c.124C>T; p.L42L; 21:43072070-43072070	skin	malignant_melanoma	Substitution - coding silent
c.561G>T; p.E187D; 21:43065492-43065492	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.767G>A; p.G256D; 21:43063961-43063961	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1618C>A; p.L540M; 21:43053918-43053918	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1043G>T; p.G348V; 21:43060543-43060543	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.1259C>T; p.S420L; 21:43058933-43058933	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]