Varaico: Literature-Extracted Genetic Variants

Gene:SYT12
Variant:p.S11S

SYT12

25 papers

RefSeq Summary

This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission....

Pfam Domains

C2aa 167–274UCSCC2 domain
C2aa 298–404UCSCC2 domain

Gene Aliases

HGNC Name

synaptotagmin 12

HGNC Alias Symbol

SRG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_177963.4
p.S11S
c.33C>T
Surrounding Variants
1 paper
NM_177963.4
p.D4G
c.11A>G
1 paper
NM_177963.4
p.A25D
c.74C>A
2 papers
NM_177963.4
p.A26E
c.77C>A
1 paper
NM_177963.4
p.P53L
c.158C>T
1 paper
NM_177963.4
p.D58N
c.172G>A
1 paper
NM_177963.4
p.R60G
c.178A>G
1 paper
NM_177963.4
p.R118R
c.354G>C
1 paper
NM_177963.4
p.P124R
c.371C>G
1 paper
NM_177963.4
p.S133L
c.398C>T
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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."