Varaico: Literature-Extracted Genetic Variants

Gene:ESYT1

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
1–12 of 65 variants
2 papers
NM_015292.3
p.S12_M14del0
c.35_40del6
1 paper
NM_015292.3
p.E2K
c.4G>A
1 paper
NM_015292.3
p.R3_S4del1
c.8_10delGAT
1 paper
NM_015292.3
p.G8_S10del3
c.22_29del9
1 paper
NM_015292.3
p.P23_P28del6
c.67_83del18
1 paper
NM_015292.3
p.A32P
c.94G>C
1 paper
NM_015292.3
p.D35_G40del6
c.103_119del18
1 paper
NM_015292.3
p.A53T
c.157G>A
1 paper
NM_015292.3
p.S57L
c.170C>T
1 paper
NM_015292.3
p.I66M
c.198A>G
1 paper
NM_015292.3
p.G79V
c.236G>T
1 paper
NM_015292.3
p.R93R
c.279G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."