Varaico: Literature-Extracted Genetic Variants

Gene:VDAC1
Variant:p.Y173H

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.Y173H
c.517T>C
Surrounding Variants
4 papers
NM_003374.3
p.K161N
c.483A>T
4 papers
NM_003374.3
p.K161N
c.483A>C
2 papers
NM_003374.3
p.A160S
c.478G>T
1 paper
NM_003374.3
p.E158K
c.472G>A
1 paper
NM_003374.3
p.N156I
c.467A>T
1 paper
NM_003374.3
p.A151A
c.453C>T
1 paper
NM_003374.3
p.W149*
c.447G>A
1 paper
NM_003374.3
p.W149*
c.446G>A
1 paper
NM_003374.3
p.A141S
c.421G>T
2 papers
NM_003374.3
p.M129V
c.385A>G
3 papers
NM_003374.3
p.C127S
c.380G>C
3 papers
NM_003374.3
p.C127S
c.379T>A
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