Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A5
Variant:p.T221S

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
6 papers
NM_001152.5
p.T221S
c.661A>T
Surrounding Variants
6 papers
NM_001152.5
p.T221S
c.662C>G
2 papers
NM_001152.5
p.V220A
c.659T>C
1 paper
NM_001152.5
p.T221T
c.663T>G
3 papers
NM_001152.5
p.T227A
c.679A>G
1 paper
NM_001152.5
p.S228C
c.683C>G
5 papers
NM_001152.5
p.F231L
c.691T>C
4 papers
NM_001152.5
p.F231L
c.693T>A
4 papers
NM_001152.5
p.F231L
c.693T>G
1 paper
NM_001152.5
p.D232V
c.695A>T
9 papers
NM_001152.5
p.R236P
c.707G>C
1 paper
NM_001152.5
p.R237G
c.709C>G
1 paper
NM_001152.5
p.G200Splc
c.599-2A>G
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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."