Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A4
Variant:p.L279P

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
1 paper
NM_001151.4
p.L279P
c.836T>C
Surrounding Variants
1 paper
NM_001151.4
p.R280G
c.838A>G
1 paper
NM_001151.4
p.A285V
c.854C>T
1 paper
NM_001151.4
p.F286S
c.857T>C
29 papers
NM_001151.4
p.V289M
c.865G>A
1 paper
NM_001151.4
p.V289V
c.867G>A
1 paper
NM_001151.4
p.G266G
c.798A>T
1 paper
NM_001151.4
p.G266E
c.797G>A
1 paper
NM_001151.4
p.I294T
c.881T>C
1 paper
NM_001151.4
p.K263R
c.788A>G
1 paper
NM_001151.4
p.Y297_*299del3
c.889_896del9
1 paper
NM_001151.4
p.Y297_*299delFs
c.890_896del7
1 paper
NM_001151.4
p.K260R
c.779A>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."