Varaico: Literature-Extracted Genetic Variants

Gene:VDAC1

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
1–12 of 107 variants
7 papers
NM_003374.3
p.E73Q
c.217G>C
4 papers
NM_003374.3
p.K20E
c.58A>G
4 papers
NM_003374.3
p.E73V
c.218A>T
4 papers
NM_003374.3
p.K161N
c.483A>T
4 papers
NM_003374.3
p.K161N
c.483A>C
3 papers
NM_003374.3
p.L31L
c.93G>A
3 papers
NM_003374.3
p.K53R
c.158A>G
3 papers
NM_003374.3
p.K61E
c.181A>G
3 papers
NM_003374.3
p.C127S
c.379T>A
3 papers
NM_003374.3
p.C127S
c.380G>C
3 papers
NM_003374.3
p.S193C
c.578C>G
3 papers
NM_003374.3
p.C232S
c.694T>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."