Entrez Gene

Basic Information
Gene ID	1474
Name	CST6
Synonymous	cystatin E/M;CST6;cystatin E/M
Definition	cystatin 6\|cystatin M\|cystatin M/E\|cystatin-6\|cystatin-E\|cystatin-M\|cysteine proteinase inhibitor
Position	11q13
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.279G>A; p.M93I; 11:66012864-66012864	skin	malignant_melanoma	Substitution - Missense
c.219C>T; p.H73H; 11:66012263-66012263	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.441G>T; p.V147V; 11:66013391-66013391	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.38C>A; p.A13D; 11:66012082-66012082	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.273G>A; p.M91I; 11:66012858-66012858	skin	malignant_melanoma	Substitution - Missense
c.314G>T; p.G105V; 11:66012899-66012899	urinary_tract; bladder	carcinoma	Substitution - Missense
c.241-1G>A; p.?; 11:66012825-66012825	stomach	carcinoma; adenocarcinoma	Unknown
c.406C>T; p.Q136*; 11:66013356-66013356	thyroid	carcinoma	Substitution - Nonsense
c.446T>A; p.M149K; 11:66013396-66013396	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.152C>T; p.A51V; 11:66012196-66012196	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.62C>T; p.A21V; 11:66012106-66012106	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.444G>A; p.Q148Q; 11:66013394-66013394	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.339delC; p.L115fs*28; 11:66012924-66012924	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.325G>A; p.D109N; 11:66012910-66012910	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.325G>A; p.D109N; 11:66012910-66012910	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.350C>T; p.A117V; 11:66012935-66012935	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.337T>C; p.C113R; 11:66012922-66012922	skin	malignant_melanoma	Substitution - Missense
c.296G>A; p.R99H; 11:66012881-66012881	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.356C>T; p.A119V; 11:66012941-66012941	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.356C>T; p.A119V; 11:66012941-66012941	liver	carcinoma	Substitution - Missense
c.356C>T; p.A119V; 11:66012941-66012941	liver	carcinoma	Substitution - Missense
c.356C>T; p.A119V; 11:66012941-66012941	liver	carcinoma	Substitution - Missense
c.356C>T; p.A119V; 11:66012941-66012941	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.281G>A; p.G94E; 11:66012866-66012866	skin	malignant_melanoma	Substitution - Missense
c.130G>T; p.D44Y; 11:66012174-66012174	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.130G>T; p.D44Y; 11:66012174-66012174	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.300G>T; p.K100N; 11:66012885-66012885	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.75C>T; p.D25D; 11:66012119-66012119	thyroid	other; neoplasm	Substitution - coding silent
c.75C>T; p.D25D; 11:66012119-66012119	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.75C>T; p.D25D; 11:66012119-66012119	breast	carcinoma	Substitution - coding silent
c.75C>T; p.D25D; 11:66012119-66012119	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.75C>T; p.D25D; 11:66012119-66012119	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.75C>T; p.D25D; 11:66012119-66012119	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.373C>T; p.R125C; 11:66013323-66013323	oesophagus	carcinoma	Substitution - Missense
c.429G>T; p.K143N; 11:66013379-66013379	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.269C>T; p.T90M; 11:66012854-66012854	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.11C>G; p.S4W; 11:66012055-66012055	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.265C>T; p.L89L; 11:66012850-66012850	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.400C>T; p.P134S; 11:66013350-66013350	skin	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]