Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A5
Variant:p.R236P

SLC25A5

163 papers

RefSeq Summary

This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitoc...

Pfam Domains

Mito_carraa 4–103UCSCMitochondrial carrier protein
Mito_carraa 109–206UCSCMitochondrial carrier protein
Mito_carraa 206–298UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 5

HGNC Previous Symbol

ANT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_001152.5
p.R236P
c.707G>C
Surrounding Variants
1 paper
NM_001152.5
p.R237G
c.709C>G
1 paper
NM_001152.5
p.D232V
c.695A>T
4 papers
NM_001152.5
p.F231L
c.693T>A
4 papers
NM_001152.5
p.F231L
c.693T>G
5 papers
NM_001152.5
p.F231L
c.691T>C
1 paper
NM_001152.5
p.R244C
c.730C>T
1 paper
NM_001152.5
p.S228C
c.683C>G
3 papers
NM_001152.5
p.T227A
c.679A>G
1 paper
NM_001152.5
p.T221T
c.663T>G
6 papers
NM_001152.5
p.T221S
c.662C>G
6 papers
NM_001152.5
p.T221S
c.661A>T
2 papers
NM_001152.5
p.V220A
c.659T>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."