Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A4
Variant:p.A114T

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
2 papers
NM_001151.4
p.A114T
c.340G>A
Surrounding Variants
37 papers
NM_001151.4
p.A114P
c.340G>C
1 paper
NM_001151.4
p.A114S
c.340G>T
1 paper
NM_001151.4
p.F113L
c.339T>A
1 paper
NM_001151.4
p.F113L
c.339T>G
1 paper
NM_001151.4
p.F113L
c.337T>C
1 paper
NM_001151.4
p.R111C
c.331C>T
1 paper
NM_001151.4
p.A118T
c.352G>A
1 paper
NM_001151.4
p.A118G
c.353C>G
1 paper
NM_001151.4
p.G120delFs
c.359delG
1 paper
NM_001151.4
p.G120S
c.358G>A
1 paper
NM_001151.4
p.K107*
c.319A>T
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."