Varaico: Literature-Extracted Genetic Variants

Gene:SYT2
Variant:p.K93_N94del1

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
1 paper
NM_177402.5
p.K93_N94del1
c.279_281delTTC
Surrounding Variants
1 paper
NM_177402.5
p.A105V
c.314C>T
1 paper
NM_177402.5
p.M108V
c.322A>G
1 paper
NM_177402.5
p.K109M
c.326A>T
2 papers
NM_177402.5
p.M111fs
c.331_332fs
2 papers
NM_177402.5
p.D110_M111insFs
c.328_331dup4
1 paper
NM_177402.5
p.G114R
c.340G>C
1 paper
NM_177402.5
p.A67T
c.199G>A
1 paper
NM_177402.5
p.N56K
c.168C>G
1 paper
NM_177402.5
p.G34_L47delFs
c.102_139del38
1 paper
NM_177402.5
p.D42delFs
c.125_126delGT
1 paper
NM_177402.5
p.D42G
c.125A>G
2 papers
NM_177402.5
p.S39S
c.117C>T
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."