Varaico: Literature-Extracted Genetic Variants

Gene:SYT7
Variant:p.L227M

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.L227M
c.679C>A
Surrounding Variants
1 paper
NM_001365809.2
p.G237C
c.709G>T
1 paper
NM_001365809.2
p.R217*
c.649C>T
1 paper
NM_001365809.2
p.R217G
c.649C>G
1 paper
NM_001365809.2
p.R238Q
c.713G>A
1 paper
NM_001365809.2
p.T210M
c.629C>T
1 paper
NM_001365809.2
p.Q247H
c.741G>T
1 paper
NM_001365809.2
p.Q247H
c.741G>C
1 paper
NM_001365809.2
p.G261G
c.783C>T
1 paper
NM_001365809.2
p.S289R
c.867C>A
1 paper
NM_001365809.2
p.V299V
c.897G>T
1 paper
NM_001365809.2
p.R306*
c.916C>T
1 paper
NM_001365809.2
p.K186Q
c.556A>C
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