Varaico: Literature-Extracted Genetic Variants

Gene:ESYT1
Variant:p.T119delFs

ESYT1

60 papers

Pfam Domains

SMP_LBDaa 135–313UCSCSynaptotagmin-like mitochondrial-lipid-binding domain
C2aa 329–435UCSCC2 domain
C2aa 478–578UCSCC2 domain
C2aa 647–753UCSCC2 domain
C2aa 798–897UCSCC2 domain
C2aa 986–1095UCSCC2 domain

Gene Aliases

HGNC Name

extended synaptotagmin 1

HGNC Previous Symbol

FAM62A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015292.3
p.T119delFs
c.356_357delCT
Surrounding Variants
1 paper
NM_015292.3
p.T119fs
c.355_356fs
1 paper
NM_015292.3
p.L120fs
c.358_359fs
1 paper
NM_015292.3
p.L102F
c.304C>T
1 paper
NM_015292.3
p.E97V
c.290A>T
1 paper
NM_015292.3
p.E97K
c.289G>A
1 paper
NM_015292.3
p.R93R
c.279G>A
1 paper
NM_015292.3
p.G79V
c.236G>T
1 paper
NM_015292.3
p.I66M
c.198A>G
1 paper
NM_015292.3
p.S57L
c.170C>T
1 paper
NM_015292.3
p.A53T
c.157G>A
1 paper
NM_015292.3
p.D35_G40del6
c.103_119del18
1 paper
NM_015292.3
p.A32P
c.94G>C
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