Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A4
Variant:p.Y132F

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.Y132F
c.395A>T
Surrounding Variants
2 papers
NM_001151.4
p.F130delFs
c.390delT
1 paper
NM_001151.4
p.F136L
c.408T>A
1 paper
NM_001151.4
p.A137P
c.409G>C
4 papers
NM_001151.4
p.A137D
c.410C>A
1 paper
NM_001151.4
p.T139S
c.415A>T
1 paper
NM_001151.4
p.A125G
c.374C>G
1 paper
NM_001151.4
p.G124E
c.371G>A
30 papers
NM_001151.4
p.A123D
c.368C>A
5 papers
NM_001151.4
p.L141F
c.423G>C
5 papers
NM_001151.4
p.L141F
c.423G>T
1 paper
NM_001151.4
p.G121A
c.362G>C
1 paper
NM_001151.4
p.G121R
c.361G>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."