Varaico: Literature-Extracted Genetic Variants

Gene:VDAC1
Variant:p.K20E

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
4 papers
NM_003374.3
p.K20E
c.58A>G
Surrounding Variants
2 papers
NM_003374.3
p.K20R
c.59A>G
1 paper
NM_003374.3
p.G21C
c.61G>T
2 papers
NM_003374.3
p.G21V
c.62G>T
1 paper
NM_003374.3
p.G21A
c.62G>C
1 paper
NM_003374.3
p.Y22D
c.64T>G
1 paper
NM_003374.3
p.Y22C
c.65A>G
1 paper
NM_003374.3
p.R15R
c.45G>A
1 paper
NM_003374.3
p.K12N
c.36A>T
1 paper
NM_003374.3
p.K12N
c.36A>C
2 papers
NM_003374.3
p.K12R
c.35A>G
1 paper
NM_003374.3
p.K12E
c.34A>G
1 paper
NM_003374.3
p.T6K
c.17C>A
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