Varaico: Literature-Extracted Genetic Variants

Gene:ESYT2
Variant:p.F44S

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.F44S
c.131T>C
Surrounding Variants
1 paper
NM_001367773.1
p.V31V
c.93G>A
1 paper
NM_001367773.1
p.G18D
c.53G>A
1 paper
NM_001367773.1
p.A81G
c.242C>G
1 paper
NM_001367773.1
p.G6D
c.17G>A
1 paper
NM_001367773.1
p.R83P
c.248G>C
1 paper
NM_001367773.1
p.M1insFs
c.1dupA
1 paper
NM_001367773.1
p.A87E
c.260C>A
1 paper
NM_001367773.1
p.W110*
c.329G>A
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