Varaico: Literature-Extracted Genetic Variants

Gene:ESYT3
Variant:p.G340S

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.G340S
c.1018G>A
Surrounding Variants
1 paper
NM_031913.5
p.Y334Y
c.1002C>T
1 paper
NM_031913.5
p.N358D
c.1072A>G
1 paper
NM_031913.5
p.N358delFs
c.1073_1074delAC
1 paper
NM_031913.5
p.E362_F363Splc
c.1086+1G>A
2 papers
NM_031913.5
p.G306R
c.916G>A
2 papers
NM_031913.5
p.G306R
c.916G>C
1 paper
NM_031913.5
p.L377M
c.1129C>A
1 paper
NM_031913.5
p.D383N
c.1147G>A
1 paper
NM_031913.5
p.D385N
c.1153G>A
1 paper
NM_031913.5
p.R300C
c.898C>T
1 paper
NM_031913.5
p.L296M
c.886C>A
1 paper
NM_031913.5
p.E273D
c.819G>C
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