Varaico: Literature-Extracted Genetic Variants

Gene:SYT7
Variant:p.S162R

SYT7

47 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 150–257UCSCC2 domain
C2aa 281–387UCSCC2 domain
C2aa 281–387UCSCC2 domain
C2aa 281–387UCSCC2 domain

Gene Aliases

HGNC Name

synaptotagmin 7

HGNC Previous Symbol

PCANAP7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001365809.2
p.S162R
c.486C>A
Surrounding Variants
1 paper
NM_001365809.2
p.S162R
c.486C>G
1 paper
NM_001365809.2
p.S162R
c.484A>C
1 paper
NM_001365809.2
p.G171E
c.512G>A
1 paper
NM_001365809.2
p.R176Q
c.527G>A
1 paper
NM_001365809.2
p.G140delFs
c.418delC
1 paper
NM_001365809.2
p.G140R
c.418G>A
1 paper
NM_001365809.2
p.K186Q
c.556A>C
1 paper
NM_001365809.2
p.A123P
c.367G>C
2 papers
NM_001365809.2
p.R112*
c.334C>T
1 paper
NM_001365809.2
p.P107L
c.320C>T
1 paper
NM_001365809.2
p.T210M
c.629C>T
1 paper
NM_001365809.2
p.R217*
c.649C>T
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