Entrez Gene

Basic Information
Gene ID	6857
Name	SYT1
Synonymous	synaptotagmin I;SYT1;synaptotagmin I
Definition	synaptotagmin 1\|synaptotagmin-1\|sytI
Position	12cen-q21
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.480G>C; p.L160L; 12:79296074-79296074	breast	carcinoma	Substitution - coding silent
c.1158G>A; p.A386A; 12:79449013-79449013	breast	carcinoma	Substitution - coding silent
c.772G>T; p.E258*; 12:79299513-79299513	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.279delA; p.K94fs*11; 12:79285899-79285899	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.849C>T; p.Y283Y; 12:79353540-79353540	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1198C>T; p.R400*; 12:79449053-79449053	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.844C>T; p.R282C; 12:79353535-79353535	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.403G>T; p.E135*; 12:79292059-79292059	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.202G>A; p.A68T; 12:79285822-79285822	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.666C>T; p.G222G; 12:79299407-79299407	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.530C>T; p.T177I; 12:79296124-79296124	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.55G>A; p.A19T; 12:79217574-79217574	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.75C>T; p.N25N; 12:79217594-79217594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.689A>G; p.Y230C; 12:79299430-79299430	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.850G>A; p.V284I; 12:79353541-79353541	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.686T>C; p.V229A; 12:79299427-79299427	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.738C>T; p.V246V; 12:79299479-79299479	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.543C>T; p.Y181Y; 12:79296137-79296137	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.984G>T; p.K328N; 12:79444128-79444128	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.984G>T; p.K328N; 12:79444128-79444128	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.294G>T; p.G98G; 12:79285914-79285914	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.569A>C; p.K190T; 12:79296163-79296163	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.229T>C; p.F77L; 12:79285849-79285849	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.229T>C; p.F77L; 12:79285849-79285849	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.229T>C; p.F77L; 12:79285849-79285849	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.229T>C; p.F77L; 12:79285849-79285849	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.229T>C; p.F77L; 12:79285849-79285849	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.229T>C; p.F77L; 12:79285849-79285849	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.928+2T>C; p.?; 12:79353621-79353621	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.999G>T; p.K333N; 12:79444143-79444143	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.230T>C; p.F77S; 12:79285850-79285850	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.230T>C; p.F77S; 12:79285850-79285850	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.643-1G>T; p.?; 12:79299383-79299383	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.231T>C; p.F77F; 12:79285851-79285851	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.284delA; p.G97fs*8; 12:79285904-79285904	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.284delA; p.G97fs*8; 12:79285904-79285904	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.894G>T; p.K298N; 12:79353585-79353585	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.607C>A; p.L203I; 12:79296201-79296201	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.174G>A; p.P58P; 12:79285794-79285794	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.781C>T; p.R261C; 12:79299522-79299522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.511G>A; p.A171T; 12:79296105-79296105	liver	carcinoma	Substitution - Missense
c.1062+2T>A; p.?; 12:79444208-79444208	liver	carcinoma	Unknown
c.338C>T; p.T113M; 12:79285958-79285958	liver	carcinoma	Substitution - Missense
c.903G>A; p.K301K; 12:79353594-79353594	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.165A>T; p.P55P; 12:79217684-79217684	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.403G>C; p.E135Q; 12:79292059-79292059	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.789G>T; p.L263L; 12:79299530-79299530	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.173delC; p.P58fs*4; 12:79285793-79285793	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.380G>T; p.G127V; 12:79292036-79292036	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.511G>A; p.A171T; 12:79296105-79296105	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.41C>A; p.P14H; 12:79217560-79217560	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.830T>C; p.I277T; 12:79353521-79353521	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.543C>A; p.Y181*; 12:79296137-79296137	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.80C>G; p.T27R; 12:79217599-79217599	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.594C>A; p.V198V; 12:79296188-79296188	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.316G>T; p.D106Y; 12:79285936-79285936	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.294G>A; p.G98G; 12:79285914-79285914	NS	malignant_melanoma	Substitution - coding silent
c.294G>A; p.G98G; 12:79285914-79285914	NS	malignant_melanoma	Substitution - coding silent
c.538C>T; p.P180S; 12:79296132-79296132	NS	malignant_melanoma	Substitution - Missense
c.137A>C; p.K46T; 12:79217656-79217656	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.244A>T; p.K82*; 12:79285864-79285864	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.231T>C; p.F77F; 12:79285851-79285851	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.274_276delAAG; p.K92delK; 12:79285894-79285896	ovary	carcinoma	Deletion - In frame
c.501C>T; p.A167A; 12:79296095-79296095	pancreas	carcinoma	Substitution - coding silent
c.510C>T; p.P170P; 12:79296104-79296104	pancreas	NS	Substitution - coding silent
c.1165C>T; p.R389*; 12:79449020-79449020	pancreas	carcinoma	Substitution - Nonsense
c.289G>A; p.G97R; 12:79285909-79285909	pancreas	carcinoma	Substitution - Missense
c.522delG; p.G176fs*7; 12:79296116-79296116	pancreas	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.446C>T; p.S149L; 12:79292102-79292102	pancreas	NS	Substitution - Missense
c.849C>A; p.Y283*; 12:79353540-79353540	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.816G>T; p.E272D; 12:79353507-79353507	prostate	adenoma	Substitution - Missense
c.56C>T; p.A19V; 12:79217575-79217575	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.282G>A; p.K94K; 12:79285902-79285902	skin	malignant_melanoma	Substitution - coding silent
c.243G>A; p.K81K; 12:79285863-79285863	skin	malignant_melanoma	Substitution - coding silent
c.1183C>T; p.L395L; 12:79449038-79449038	skin	malignant_melanoma	Substitution - coding silent
c.539C>T; p.P180L; 12:79296133-79296133	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.942G>A; p.K314K; 12:79444086-79444086	skin	malignant_melanoma	Substitution - coding silent
c.910G>A; p.D304N; 12:79353601-79353601	skin	malignant_melanoma	Substitution - Missense
c.294G>A; p.G98G; 12:79285914-79285914	skin	malignant_melanoma	Substitution - coding silent
c.294G>A; p.G98G; 12:79285914-79285914	skin	malignant_melanoma	Substitution - coding silent
c.294G>A; p.G98G; 12:79285914-79285914	skin	malignant_melanoma	Substitution - coding silent
c.109G>A; p.E37K; 12:79217628-79217628	skin	malignant_melanoma	Substitution - Missense
c.109G>A; p.E37K; 12:79217628-79217628	skin	malignant_melanoma	Substitution - Missense
c.283G>A; p.E95K; 12:79285903-79285903	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.283G>A; p.E95K; 12:79285903-79285903	skin	malignant_melanoma	Substitution - Missense
c.283G>A; p.E95K; 12:79285903-79285903	skin	malignant_melanoma	Substitution - Missense
c.283G>A; p.E95K; 12:79285903-79285903	skin; arm	malignant_melanoma	Substitution - Missense
c.1199G>A; p.R400Q; 12:79449054-79449054	skin	malignant_melanoma	Substitution - Missense
c.739C>T; p.P247S; 12:79299480-79299480	skin	malignant_melanoma	Substitution - Missense
c.583G>C; p.E195Q; 12:79296177-79296177	skin	malignant_melanoma	Substitution - Missense
c.489C>T; p.I163I; 12:79296083-79296083	skin	malignant_melanoma	Substitution - coding silent
c.1012C>T; p.P338S; 12:79444156-79444156	skin	malignant_melanoma	Substitution - Missense
c.207C>T; p.V69V; 12:79285827-79285827	skin	malignant_melanoma	Substitution - coding silent
c.862G>A; p.G288S; 12:79353553-79353553	skin	malignant_melanoma	Substitution - Missense
c.237C>T; p.I79I; 12:79285857-79285857	skin	malignant_melanoma	Substitution - coding silent
c.753G>A; p.V251V; 12:79299494-79299494	skin	malignant_melanoma	Substitution - coding silent
c.753G>A; p.V251V; 12:79299494-79299494	skin	malignant_melanoma	Substitution - coding silent
c.1055A>C; p.Q352P; 12:79444199-79444199	skin	malignant_melanoma	Substitution - Missense
c.339G>A; p.T113T; 12:79285959-79285959	skin	malignant_melanoma	Substitution - coding silent
c.614C>T; p.P205L; 12:79296208-79296208	skin	malignant_melanoma	Substitution - Missense
c.164C>T; p.P55L; 12:79217683-79217683	skin	malignant_melanoma	Substitution - Missense
c.1122C>T; p.I374I; 12:79448977-79448977	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.1114G>A; p.D372N; 12:79448969-79448969	skin; mucosal	malignant_melanoma	Substitution - Missense
c.720C>T; p.I240I; 12:79299461-79299461	skin	malignant_melanoma	Substitution - coding silent
c.418G>A; p.E140K; 12:79292074-79292074	skin	malignant_melanoma	Substitution - Missense
c.844C>T; p.R282C; 12:79353535-79353535	skin	malignant_melanoma	Substitution - Missense
c.822G>A; p.L274L; 12:79353513-79353513	skin	malignant_melanoma	Substitution - coding silent
c.599G>A; p.R200Q; 12:79296193-79296193	skin	malignant_melanoma	Substitution - Missense
c.751G>A; p.V251M; 12:79299492-79299492	skin	malignant_melanoma	Substitution - Missense
c.289G>A; p.G97R; 12:79285909-79285909	skin	malignant_melanoma	Substitution - Missense
c.744G>A; p.M248I; 12:79299485-79299485	skin	malignant_melanoma	Substitution - Missense
c.700C>T; p.R234C; 12:79299441-79299441	skin	malignant_melanoma	Substitution - Missense
c.486G>A; p.G162G; 12:79296080-79296080	skin	malignant_melanoma	Substitution - coding silent
c.839C>T; p.S280F; 12:79353530-79353530	skin	malignant_melanoma	Substitution - Missense
c.894G>A; p.K298K; 12:79353585-79353585	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.163C>T; p.P55S; 12:79217682-79217682	skin; extremity	malignant_melanoma	Substitution - Missense
c.163C>T; p.P55S; 12:79217682-79217682	skin	malignant_melanoma	Substitution - Missense
c.654G>A; p.S218S; 12:79299395-79299395	skin	malignant_melanoma	Substitution - coding silent
c.261G>A; p.K87K; 12:79285881-79285881	skin	malignant_melanoma	Substitution - coding silent
c.781C>T; p.R261C; 12:79299522-79299522	skin	malignant_melanoma	Substitution - Missense
c.391G>A; p.G131R; 12:79292047-79292047	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.728A>G; p.E243G; 12:79299469-79299469	skin	malignant_melanoma	Substitution - Missense
c.462C>T; p.F154F; 12:79292118-79292118	skin	malignant_melanoma	Substitution - coding silent
c.538C>T; p.P180S; 12:79296132-79296132	skin	malignant_melanoma	Substitution - Missense
c.538C>T; p.P180S; 12:79296132-79296132	skin	malignant_melanoma	Substitution - Missense
c.538C>T; p.P180S; 12:79296132-79296132	skin	malignant_melanoma	Substitution - Missense
c.538C>T; p.P180S; 12:79296132-79296132	skin	malignant_melanoma	Substitution - Missense
c.883C>A; p.L295M; 12:79353574-79353574	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.693T>C; p.D231D; 12:79299434-79299434	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.511G>A; p.A171T; 12:79296105-79296105	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.653C>T; p.S218L; 12:79299394-79299394	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.362A>G; p.D121G; 12:79292018-79292018	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.137A>C; p.K46T; 12:79217656-79217656	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.75C>T; p.N25N; 12:79217594-79217594	thyroid	other; neoplasm	Substitution - coding silent
c.826G>A; p.D276N; 12:79353517-79353517	thyroid	carcinoma	Substitution - Missense
c.249T>A; p.C83*; 12:79285869-79285869	thyroid	other; neoplasm	Substitution - Nonsense
c.44T>C; p.V15A; 12:79217563-79217563	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1103T>G; p.I368S; 12:79448958-79448958	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1103T>G; p.I368S; 12:79448958-79448958	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.543C>G; p.Y181*; 12:79296137-79296137	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1044A>C; p.V348V; 12:79444188-79444188	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1093T>C; p.Y365H; 12:79448948-79448948	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1093T>C; p.Y365H; 12:79448948-79448948	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.45C>A; p.V15V; 12:79217564-79217564	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.59C>A; p.T20N; 12:79217578-79217578	urinary_tract; bladder	carcinoma	Substitution - Missense
c.59C>A; p.T20N; 12:79217578-79217578	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense

Oncogene database

COSMIC confirmed somatic mutation [Top]

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