Varaico: Literature-Extracted Genetic Variants

Gene:SYT2
Variant:p.R397delFs

SYT2

87 papers

RefSeq Summary

This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated wit...

Pfam Domains

C2aa 154–260UCSCC2 domain
C2aa 285–391UCSCC2 domain

Gene Aliases

HGNC Name

synaptotagmin 2

HGNC Previous Name

synaptotagmin II

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_177402.5
p.R397delFs
c.1191delC
Surrounding Variants
1 paper
NM_177402.5
p.R397S
c.1191G>T
1 paper
NM_177402.5
p.R397S
c.1191G>C
3 papers
NM_177402.5
p.R397fs
c.1189_1190fs
1 paper
NM_177402.5
p.G382S
c.1144G>A
1 paper
NM_177402.5
p.I374_G377del4
c.1120_1130del12
1 paper
NM_177402.5
p.N418N
c.1254C>T
8 papers
NM_177402.5
p.I371K
c.1112T>A
3 papers
NM_177402.5
p.D361_G366del0
c.1082_1096del15
2 papers
NM_177402.5
p.L365P
c.1094T>C
1 paper
NM_177402.5
p.Y362_D363del0
c.1084_1089del6
1 paper
NM_177402.5
p.D363N
c.1087G>A
1 paper
NM_177402.5
p.D361G
c.1082A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."