Varaico: Literature-Extracted Genetic Variants

Gene:ESYT2
Variant:p.C134S

ESYT2

44 papers

Pfam Domains

SMP_LBDaa 115–294UCSCSynaptotagmin-like mitochondrial-lipid-binding domain
C2aa 309–415UCSCC2 domain
C2aa 460–561UCSCC2 domain
C2aa 536–637UCSCC2 domain
C2aa 725–834UCSCC2 domain

Gene Aliases

HGNC Name

extended synaptotagmin 2

HGNC Previous Symbol

FAM62B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001367773.1
p.C134S
c.400T>A
Surrounding Variants
1 paper
NM_001367773.1
p.C134S
c.401G>C
1 paper
NM_001367773.1
p.P147T
c.439C>A
1 paper
NM_001367773.1
p.T162S
c.484A>T
1 paper
NM_001367773.1
p.Q168R
c.503A>G
1 paper
NM_001367773.1
p.F113S
c.338T>C
1 paper
NM_001367773.1
p.V197L
c.589G>T
1 paper
NM_001367773.1
p.V197L
c.589G>C
1 paper
NM_001367773.1
p.V197I
c.589G>A
1 paper
NM_001367773.1
p.R225W
c.673C>T
1 paper
NM_001367773.1
p.I232fs
c.694_695fs
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