Varaico: Literature-Extracted Genetic Variants

Gene:VDAC1
Variant:p.S46L

VDAC1

206 papers

RefSeq Summary

This gene encodes a voltage-dependent anion channel protein that is a major component of the outer mitochondrial membrane. The encoded protein facilitates the exchange of metabolites and ions across t...

Pfam Domains

Porin_3aa 3–276UCSCEukaryotic porin

Gene Aliases

HGNC Name

voltage dependent anion channel 1

HGNC Alias Symbols

MGC111064; PORIN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003374.3
p.S46L
c.137C>T
Surrounding Variants
1 paper
NM_003374.3
p.S46A
c.136T>G
1 paper
NM_003374.3
p.E40A
c.119A>C
3 papers
NM_003374.3
p.K53R
c.158A>G
3 papers
NM_003374.3
p.K61E
c.181A>G
1 paper
NM_003374.3
p.T65P
c.193A>C
1 paper
NM_003374.3
p.E66K
c.196G>A
1 paper
NM_003374.3
p.L69L
c.207G>A
1 paper
NM_003374.3
p.T70delFs
c.208delT
7 papers
NM_003374.3
p.E73Q
c.217G>C
4 papers
NM_003374.3
p.E73V
c.218A>T
1 paper
NM_003374.3
p.E73A
c.218A>C
1 paper
NM_003374.3
p.E73D
c.219G>T
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."