Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A2
Variant:p.P69L

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
1 paper
NM_031947.4
p.P69L
c.206C>T
Surrounding Variants
1 paper
NM_031947.4
p.A70delFs
c.208_209delGC
1 paper
NM_031947.4
p.M72I
c.216G>T
1 paper
NM_031947.4
p.M72I
c.216G>C
1 paper
NM_031947.4
p.M72I
c.216G>A
1 paper
NM_031947.4
p.Y74D
c.220T>G
1 paper
NM_031947.4
p.Y74N
c.220T>A
1 paper
NM_031947.4
p.Y74*
c.222C>A
1 paper
NM_031947.4
p.E77K
c.229G>A
1 paper
NM_031947.4
p.S79A
c.235T>G
1 paper
NM_031947.4
p.A56A
c.168T>C
2 papers
NM_031947.4
p.K53N
c.159G>C
2 papers
NM_031947.4
p.Y44*
c.132C>G
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."