Varaico: Literature-Extracted Genetic Variants

Gene:VDAC1
Variant:p.L31L

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
3 papers
NM_003374.3
p.L31L
c.93G>A
Surrounding Variants
1 paper
NM_003374.3
p.L31F
c.93G>C
1 paper
NM_003374.3
p.L26S
c.77T>C
1 paper
NM_003374.3
p.N37D
c.109A>G
2 papers
NM_003374.3
p.G23V
c.68G>T
1 paper
NM_003374.3
p.G23A
c.68G>C
1 paper
NM_003374.3
p.G23fs
c.67_68fs
1 paper
NM_003374.3
p.G23Splc
c.68-2A>T
1 paper
NM_003374.3
p.Y22C
c.65A>G
1 paper
NM_003374.3
p.Y22D
c.64T>G
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.G21C
c.61G>T
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