Entrez Gene

Basic Information
Gene ID	23466
Name	CBX6
Synonymous	chromobox homolog 6;CBX6;chromobox homolog 6
Definition	chromobox protein homolog 6
Position	22q13.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.544G>A; p.D182N; 22:38866904-38866904	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.146T>A; p.L49Q; 22:38871725-38871725	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.370C>T; p.R124C; 22:38867078-38867078	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.571G>A; p.G191R; 22:38866877-38866877	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1212C>T; p.G404G; 22:38866236-38866236	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.596G>A; p.R199H; 22:38866852-38866852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1124G>A; p.S375N; 22:38866324-38866324	skin; trunk	malignant_melanoma	Substitution - Missense
c.1075C>T; p.R359C; 22:38866373-38866373	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.440G>A; p.R147H; 22:38867008-38867008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.602A>G; p.K201R; 22:38866846-38866846	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.595C>T; p.R199C; 22:38866853-38866853	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.543C>T; p.I181I; 22:38866905-38866905	pancreas	carcinoma	Substitution - coding silent
c.1113C>T; p.T371T; 22:38866335-38866335	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.658C>T; p.L220L; 22:38866790-38866790	skin	malignant_melanoma	Substitution - coding silent
c.825C>T; p.S275S; 22:38866623-38866623	skin	malignant_melanoma	Substitution - coding silent
c.246G>A; p.K82K; 22:38871480-38871480	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1085T>A; p.M362K; 22:38866363-38866363	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1173C>T; p.F391F; 22:38866275-38866275	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1173C>T; p.F391F; 22:38866275-38866275	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.485G>A; p.R162H; 22:38866963-38866963	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.967G>T; p.A323S; 22:38866481-38866481	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1008C>T; p.A336A; 22:38866440-38866440	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.721C>T; p.P241S; 22:38866727-38866727	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.433G>A; p.G145R; 22:38867015-38867015	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.904C>T; p.P302S; 22:38866544-38866544	lung	carcinoid-endocrine_tumour; typical	Substitution - Missense
c.129G>A; p.E43E; 22:38871742-38871742	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.948C>T; p.S316S; 22:38866500-38866500	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.948C>T; p.S316S; 22:38866500-38866500	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.797C>T; p.A266V; 22:38866651-38866651	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.955C>G; p.P319A; 22:38866493-38866493	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.210G>T; p.K70N; 22:38871516-38871516	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.724delC; p.L242fs*2; 22:38866724-38866724	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.724delC; p.L242fs*2; 22:38866724-38866724	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.712C>T; p.P238S; 22:38866736-38866736	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.918C>T; p.S306S; 22:38866530-38866530	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.739C>T; p.P247S; 22:38866709-38866709	skin	malignant_melanoma	Substitution - Missense
c.1206T>G; p.A402A; 22:38866242-38866242	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.274A>T; p.I92F; 22:38867174-38867174	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.405C>T; p.P135P; 22:38867043-38867043	skin	malignant_melanoma	Substitution - coding silent
c.1194A>G; p.V398V; 22:38866254-38866254	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1123A>C; p.S375R; 22:38866325-38866325	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.395G>A; p.R132H; 22:38867053-38867053	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1179G>A; p.K393K; 22:38866269-38866269	skin	malignant_melanoma	Substitution - coding silent
c.1027G>T; p.A343S; 22:38866421-38866421	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.735G>T; p.P245P; 22:38866713-38866713	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.735G>T; p.P245P; 22:38866713-38866713	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.522C>T; p.I174I; 22:38866926-38866926	liver	carcinoma	Substitution - coding silent
c.522C>T; p.I174I; 22:38866926-38866926	liver	carcinoma	Substitution - coding silent
c.947C>T; p.S316F; 22:38866501-38866501	large_intestine; colon	carcinoma	Substitution - Missense
c.484C>T; p.R162C; 22:38866964-38866964	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.947C>T; p.S316F; 22:38866501-38866501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.947C>T; p.S316F; 22:38866501-38866501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.144C>T; p.I48I; 22:38871727-38871727	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.444G>A; p.P148P; 22:38867004-38867004	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.865G>A; p.D289N; 22:38866583-38866583	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.687C>T; p.F229F; 22:38866761-38866761	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.587C>T; p.A196V; 22:38866861-38866861	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1136C>T; p.T379M; 22:38866312-38866312	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.562G>A; p.G188R; 22:38866886-38866886	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.842C>T; p.P281L; 22:38866606-38866606	thyroid	carcinoma	Substitution - Missense
c.267_268CC>TT; p.L90F; 22:38867180-38867181	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.987G>A; p.P329P; 22:38866461-38866461	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.255C>G; p.A85A; 22:38867193-38867193	ovary	other; neoplasm	Substitution - coding silent
c.698C>T; p.A233V; 22:38866750-38866750	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.374G>A; p.R125H; 22:38867074-38867074	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1027G>C; p.A343P; 22:38866421-38866421	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.500G>A; p.R167Q; 22:38866948-38866948	stomach	adenocarcinoma	Substitution - Missense
c.595C>A; p.R199S; 22:38866853-38866853	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1083G>T; p.E361D; 22:38866365-38866365	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.392G>A; p.R131H; 22:38867056-38867056	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.133G>C; p.E45Q; 22:38871738-38871738	lung	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]