Varaico: Literature-Extracted Genetic Variants

Gene:ESYT3

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
1–12 of 81 variants
8 papers
NM_031913.5
p.G416R
c.1246G>A
8 papers
NM_031913.5
p.G416R
c.1246G>C
3 papers
NM_031913.5
p.T662S
c.1984A>T
2 papers
NM_031913.5
p.G306R
c.916G>A
2 papers
NM_031913.5
p.G306R
c.916G>C
2 papers
NM_031913.5
p.G590R
c.1768G>A
2 papers
NM_031913.5
p.G590R
c.1768G>C
2 papers
NM_031913.5
p.T611N
c.1832C>A
1 paper
NM_031913.5
p.M1insFs
c.1dupA
1 paper
NM_031913.5
p.G103delFs
c.308delG
1 paper
NM_031913.5
p.N122K
c.366C>A
1 paper
NM_031913.5
p.N122K
c.366C>G
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