Varaico: Literature-Extracted Genetic Variants

Gene:SYT2
Variant:p.S306L

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
3 papers
NM_177402.5
p.S306L
c.917C>T
Surrounding Variants
1 paper
NM_177402.5
p.T283R
c.848C>G
1 paper
NM_177402.5
p.R279_V281del3
c.835_842del9
2 papers
NM_177402.5
p.E269*
c.805G>T
1 paper
NM_177402.5
p.D307Splc
c.919+111G>A
13 papers
NM_177402.5
p.D307A
c.920A>C
16 papers
NM_177402.5
p.P308L
c.923C>T
2 papers
NM_177402.5
p.Y309*
c.927C>G
2 papers
NM_177402.5
p.Y309*
c.927C>A
1 paper
NM_177402.5
p.K324N
c.972G>T
1 paper
NM_177402.5
p.K324N
c.972G>C
1 paper
NM_177402.5
p.K325_T326del1
c.974_976delTCT
2 papers
NM_177402.5
p.K329R
c.986A>G
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