Varaico: Literature-Extracted Genetic Variants

Gene:ESYT2
Variant:p.L457F

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.L457F
c.1369C>T
Surrounding Variants
1 paper
NM_001367773.1
p.E428*
c.1282G>T
1 paper
NM_001367773.1
p.Y366F
c.1097A>T
1 paper
NM_001367773.1
p.Y366C
c.1097A>G
1 paper
NM_001367773.1
p.A488S
c.1462G>T
1 paper
NM_001367773.1
p.I289T
c.866T>C
1 paper
NM_001367773.1
p.E517G
c.1550A>G
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