Varaico: Literature-Extracted Genetic Variants

Gene:ESYT3
Variant:p.K530K

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.K530K
c.1590G>A
Surrounding Variants
1 paper
NM_031913.5
p.Q549*
c.1645C>T
1 paper
NM_031913.5
p.A554V
c.1661C>T
1 paper
NM_031913.5
p.M575L
c.1723A>C
1 paper
NM_031913.5
p.P457L
c.1370C>T
1 paper
NM_031913.5
p.L450S
c.1349T>C
1 paper
NM_031913.5
p.V448del1
c.1342_1343delGTC
1 paper
NM_031913.5
p.V447_V448del1
c.1341_1343delGGT
1 paper
NM_031913.5
p.S442Y
c.1325C>A
8 papers
NM_031913.5
p.G416R
c.1246G>A
8 papers
NM_031913.5
p.G416R
c.1246G>C
2 papers
NM_031913.5
p.G590R
c.1768G>A
2 papers
NM_031913.5
p.G590R
c.1768G>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."