Entrez Gene

Basic Information
Gene ID	2054
Name	STX2
Synonymous	syntaxin 2;STX2;syntaxin 2
Definition	epimorphin\|syntaxin-2
Position	12q24.33
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.754A>T; p.K252*; 12:130798557-130798557	bone; pelvis	chondrosarcoma	Substitution - Nonsense
c.673C>A; p.Q225K; 12:130801155-130801155	ovary	other; neoplasm	Substitution - Missense
c.279G>T; p.K93N; 12:130812958-130812958	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.675G>T; p.Q225H; 12:130801153-130801153	ovary	other; neoplasm	Substitution - Missense
c.392C>G; p.A131G; 12:130807053-130807053	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.445C>T; p.Q149*; 12:130807000-130807000	skin	malignant_melanoma	Substitution - Nonsense
c.360G>A; p.S120S; 12:130807085-130807085	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.498G>C; p.E166D; 12:130801454-130801454	pancreas	carcinoma	Substitution - Missense
c.344G>T; p.R115L; 12:130808641-130808641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.265C>T; p.R89*; 12:130812972-130812972	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.265C>T; p.R89*; 12:130812972-130812972	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.151G>C; p.E51Q; 12:130821743-130821743	breast	carcinoma	Substitution - Missense
c.343C>T; p.R115*; 12:130808642-130808642	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.311G>T; p.S104I; 12:130808674-130808674	lung; left_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.320G>A; p.R107Q; 12:130808665-130808665	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.281-2A>T; p.?; 12:130808706-130808706	lung	carcinoma; adenocarcinoma	Unknown
c.762C>G; p.I254M; 12:130798549-130798549	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.723C>T; p.D241D; 12:130798588-130798588	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.263T>C; p.I88T; 12:130812974-130812974	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.273G>A; p.K91K; 12:130812964-130812964	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.41A>G; p.N14S; 12:130827257-130827257	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.737C>T; p.A246V; 12:130798574-130798574	skin	malignant_melanoma	Substitution - Missense
c.385G>A; p.A129T; 12:130807060-130807060	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.53A>T; p.D18V; 12:130827245-130827245	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.320G>T; p.R107L; 12:130808665-130808665	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.628G>A; p.E210K; 12:130801200-130801200	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.109G>A; p.E37K; 12:130821785-130821785	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.260A>C; p.K87T; 12:130812977-130812977	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.210A>G; p.I70M; 12:130813027-130813027	liver	carcinoma	Substitution - Missense
c.210A>G; p.I70M; 12:130813027-130813027	liver	carcinoma	Substitution - Missense
c.470G>C; p.R157T; 12:130801482-130801482	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.428G>A; p.R143Q; 12:130807017-130807017	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.428G>A; p.R143Q; 12:130807017-130807017	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.569C>T; p.A190V; 12:130801259-130801259	prostate	carcinoma	Substitution - Missense
c.678T>G; p.G226G; 12:130798633-130798633	skin	malignant_melanoma	Substitution - coding silent
c.543A>G; p.I181M; 12:130801285-130801285	kidney	other; neoplasm	Substitution - Missense
c.848_849insC; p.T284fs*>5; 12:130791915-130791916	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Insertion - Frameshift
c.421C>T; p.R141W; 12:130807024-130807024	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.312T>C; p.S104S; 12:130808673-130808673	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.312T>C; p.S104S; 12:130808673-130808673	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.696A>G; p.I232M; 12:130798615-130798615	breast	carcinoma	Substitution - Missense
c.449G>A; p.R150H; 12:130806996-130806996	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.756delA; p.A253fs*12; 12:130798555-130798555	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.756delA; p.A253fs*12; 12:130798555-130798555	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.756delA; p.A253fs*12; 12:130798555-130798555	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.50G>C; p.G17A; 12:130827248-130827248	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.50G>C; p.G17A; 12:130827248-130827248	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.486C>T; p.D162D; 12:130801466-130801466	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.753A>T; p.K251N; 12:130798558-130798558	bone; pelvis	chondrosarcoma	Substitution - Missense
c.103C>T; p.Q35*; 12:130827195-130827195	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.850A>G; p.T284A; 12:130791914-130791914	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.58G>C; p.V20L; 12:130827240-130827240	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.270C>G; p.A90A; 12:130812967-130812967	breast	carcinoma	Substitution - coding silent
c.338G>A; p.R113Q; 12:130808647-130808647	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.216A>C; p.E72D; 12:130813021-130813021	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]