Varaico: Literature-Extracted Genetic Variants

Gene:ESYT3
Variant:p.I124M

ESYT3

66 papers

Pfam Domains

SMP_LBDaa 114–291UCSCSynaptotagmin-like mitochondrial-lipid-binding domain
C2aa 306–410UCSCC2 domain
C2aa 446–564UCSCC2 domain
C2aa 769–878UCSCC2 domain

Gene Aliases

HGNC Name

extended synaptotagmin 3

HGNC Previous Symbol

FAM62C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031913.5
p.I124M
c.372C>G
Surrounding Variants
1 paper
NM_031913.5
p.I125M
c.375C>G
1 paper
NM_031913.5
p.W129C
c.387G>C
1 paper
NM_031913.5
p.W129C
c.387G>T
1 paper
NM_031913.5
p.K147E
c.439A>G
1 paper
NM_031913.5
p.T161S
c.481A>T
1 paper
NM_031913.5
p.T161S
c.482C>G
1 paper
NM_031913.5
p.T179A
c.535A>G
1 paper
NM_031913.5
p.L191Q
c.572T>A
1 paper
NM_031913.5
p.Q192*
c.574C>T
1 paper
NM_031913.5
p.Q192H
c.576G>C
1 paper
NM_031913.5
p.Q192H
c.576G>T
1 paper
NM_031913.5
p.N122K
c.366C>A
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