Varaico: Literature-Extracted Genetic Variants

Gene:VDAC1
Variant:p.E73V

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.E73V
c.218A>T
Surrounding Variants
1 paper
NM_003374.3
p.E73A
c.218A>C
1 paper
NM_003374.3
p.E73D
c.219G>T
7 papers
NM_003374.3
p.E73Q
c.217G>C
1 paper
NM_003374.3
p.E73D
c.219G>C
1 paper
NM_003374.3
p.T70delFs
c.208delT
1 paper
NM_003374.3
p.L69L
c.207G>A
1 paper
NM_003374.3
p.T77T
c.231C>T
1 paper
NM_003374.3
p.D78N
c.232G>A
1 paper
NM_003374.3
p.E66K
c.196G>A
1 paper
NM_003374.3
p.L81P
c.242T>C
1 paper
NM_003374.3
p.L81Q
c.242T>A
1 paper
NM_003374.3
p.T65P
c.193A>C
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