Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A2
Variant:p.Q179R

SLC25A2

61 papers

RefSeq Summary

This intronless gene encodes a protein that localizes to the mitochondrial inner membrane and likely functions as a transporter of small molecules such as ornithine. This gene is located between the p...

Pfam Domains

Mito_carraa 6–96UCSCMitochondrial carrier protein
Mito_carraa 102–202UCSCMitochondrial carrier protein
Mito_carraa 205–298UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 2

HGNC Alias Symbol

ORNT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_031947.4
p.Q179R
c.536A>G
Surrounding Variants
2 papers
NM_031947.4
p.E180K
c.538G>A
1 paper
NM_031947.4
p.E180D
c.540A>T
1 paper
NM_031947.4
p.E180D
c.540A>C
1 paper
NM_031947.4
p.L177L
c.531A>G
2 papers
NM_031947.4
p.V181G
c.542T>G
1 paper
NM_031947.4
p.G172R
c.514G>C
1 paper
NM_031947.4
p.G172R
c.514G>A
1 paper
NM_031947.4
p.F188L
c.562T>C
1 paper
NM_031947.4
p.F188L
c.564T>G
1 paper
NM_031947.4
p.F188L
c.564T>A
1 paper
NM_031947.4
p.G190D
c.569G>A
1 paper
NM_031947.4
p.E192*
c.574G>T
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