Varaico: Literature-Extracted Genetic Variants

Gene:VDAC1
Variant:p.N216S

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.N216S
c.647A>G
Surrounding Variants
1 paper
NM_003374.3
p.L208_S215del0
c.624_644del21
1 paper
NM_003374.3
p.R218insFs
c.652_653insG
1 paper
NM_003374.3
p.N214D
c.640A>G
1 paper
NM_003374.3
p.N207D
c.619A>G
2 papers
NM_003374.3
p.I227V
c.679A>G
1 paper
NM_003374.3
p.K200insFs
c.600dupG
3 papers
NM_003374.3
p.C232S
c.694T>A
3 papers
NM_003374.3
p.C232S
c.695G>C
3 papers
NM_003374.3
p.S193C
c.578C>G
1 paper
NM_003374.3
p.S193A
c.577T>G
2 papers
NM_003374.3
p.K236E
c.706A>G
1 paper
NM_003374.3
p.K236Q
c.706A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."