Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A4
Variant:p.R80H

SLC25A4

235 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 4

HGNC Previous Symbols

PEO3; PEO2; ANT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
20 papers
NM_001151.4
p.R80H
c.239G>A
Surrounding Variants
1 paper
NM_001151.4
p.Y81C
c.242A>G
1 paper
NM_001151.4
p.A76V
c.227C>T
1 paper
NM_001151.4
p.Q85E
c.253C>G
1 paper
NM_001151.4
p.Q85*
c.253C>T
1 paper
NM_001151.4
p.L75Q
c.224T>A
1 paper
NM_001151.4
p.L75V
c.223C>G
1 paper
NM_001151.4
p.A86T
c.256G>A
1 paper
NM_001151.4
p.R72K
c.215G>A
1 paper
NM_001151.4
p.A90T
c.268G>A
26 papers
NM_001151.4
p.A90D
c.269C>A
1 paper
NM_001151.4
p.F91L
c.271T>C
1 paper
NM_001151.4
p.F91L
c.273C>A
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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."