Varaico: Literature-Extracted Genetic Variants

Gene:VDAC1
Variant:p.K236Q

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.K236Q
c.706A>C
Surrounding Variants
2 papers
NM_003374.3
p.K236E
c.706A>G
1 paper
NM_003374.3
p.K236R
c.707A>G
1 paper
NM_003374.3
p.N239D
c.715A>G
1 paper
NM_003374.3
p.S241C
c.721A>T
2 papers
NM_003374.3
p.G244C
c.730G>T
1 paper
NM_003374.3
p.G244A
c.731G>C
1 paper
NM_003374.3
p.G244D
c.731G>A
1 paper
NM_003374.3
p.T250A
c.748A>G
1 paper
NM_003374.3
p.K252E
c.754A>G
1 paper
NM_003374.3
p.N269fs
c.805_806fs
1 paper
NM_003374.3
p.G271D
c.812G>A
1 paper
NM_003374.3
p.G272V
c.815G>T
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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."