Varaico: Literature-Extracted Genetic Variants

Gene:ESYT3
Variant:p.N257K

ESYT3

66 papers

Pfam Domains

SMP_LBDaa 114–291UCSCSynaptotagmin-like mitochondrial-lipid-binding domain
C2aa 306–410UCSCC2 domain
C2aa 446–564UCSCC2 domain
C2aa 769–878UCSCC2 domain

Gene Aliases

HGNC Name

extended synaptotagmin 3

HGNC Previous Symbol

FAM62C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031913.5
p.N257K
c.771C>G
Surrounding Variants
1 paper
NM_031913.5
p.N257K
c.771C>A
1 paper
NM_031913.5
p.P246Q
c.737C>A
1 paper
NM_031913.5
p.T239S
c.715A>T
1 paper
NM_031913.5
p.V238M
c.712G>A
1 paper
NM_031913.5
p.E226D
c.678G>C
1 paper
NM_031913.5
p.E226D
c.678G>T
1 paper
NM_031913.5
p.Q216_L217Splc
c.648+8G>A
1 paper
NM_031913.5
p.K207E
c.619A>G
1 paper
NM_031913.5
p.E204fs
c.610_611fs
1 paper
NM_031913.5
p.D266Y
c.796G>T
1 paper
NM_031913.5
p.G197R
c.589G>C
1 paper
NM_031913.5
p.E273D
c.819G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."