Varaico: Literature-Extracted Genetic Variants

Gene:VDAC1
Variant:p.M129V

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
2 papers
NM_003374.3
p.M129V
c.385A>G
Surrounding Variants
3 papers
NM_003374.3
p.C127S
c.380G>C
3 papers
NM_003374.3
p.C127S
c.379T>A
1 paper
NM_003374.3
p.R120Q
c.359G>A
1 paper
NM_003374.3
p.R120W
c.358C>T
1 paper
NM_003374.3
p.A141S
c.421G>T
1 paper
NM_003374.3
p.I114T
c.341T>C
1 paper
NM_003374.3
p.K113N
c.339A>T
1 paper
NM_003374.3
p.N111delFs
c.332delT
1 paper
NM_003374.3
p.K110R
c.329A>G
1 paper
NM_003374.3
p.K110*
c.328A>T
1 paper
NM_003374.3
p.K110E
c.328A>G
2 papers
NM_003374.3
p.K109R
c.326A>G
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