Varaico: Literature-Extracted Genetic Variants

Gene:SYT7
Variant:p.C35S

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.C35S
c.103T>A
Surrounding Variants
1 paper
NM_001365809.2
p.C35S
c.104G>C
1 paper
NM_001365809.2
p.C38S
c.112T>A
1 paper
NM_001365809.2
p.C38S
c.113G>C
1 paper
NM_001365809.2
p.C41S
c.121T>A
1 paper
NM_001365809.2
p.C41S
c.122G>C
1 paper
NM_001365809.2
p.R43fs
c.127_128fs
1 paper
NM_001365809.2
p.A22T
c.64G>A
1 paper
NM_001365809.2
p.S14*
c.41C>A
1 paper
NM_001365809.2
p.P13H
c.38C>A
1 paper
NM_001365809.2
p.T55M
c.164C>T
1 paper
NM_001365809.2
p.P107L
c.320C>T
2 papers
NM_001365809.2
p.R112*
c.334C>T
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