Varaico: Literature-Extracted Genetic Variants

Gene:ESYT2
Variant:p.K695delFs

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.K695delFs
c.2084delT
Surrounding Variants
1 paper
NM_001367773.1
p.I653T
c.1958T>C
1 paper
NM_001367773.1
p.L600P
c.1799T>C
1 paper
NM_001367773.1
p.R579C
c.1735C>T
1 paper
NM_001367773.1
p.Q567*
c.1699C>T
1 paper
NM_001367773.1
p.K562E
c.1684A>G
1 paper
NM_001367773.1
p.S730F
c.2189C>T
1 paper
NM_001367773.1
p.R756Splc
c.2268-8G>T
1 paper
NM_001367773.1
p.N794S
c.2381A>G
2 papers
NM_001367773.1
p.F536L
c.1606T>C
1 paper
NM_001367773.1
p.W852R
c.2554T>C
1 paper
NM_001367773.1
p.E517G
c.1550A>G
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