Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A4
Variant:p.S22P

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.S22P
c.64T>C
Surrounding Variants
1 paper
NM_001151.4
p.S22Y
c.65C>A
1 paper
NM_001151.4
p.S22insFs
c.64_65insT
1 paper
NM_001151.4
p.K23*
c.67A>T
1 paper
NM_001151.4
p.A18P
c.52G>C
1 paper
NM_001151.4
p.V26G
c.77T>G
1 paper
NM_001151.4
p.G16D
c.47G>A
1 paper
NM_001151.4
p.G15R
c.43G>A
1 paper
NM_001151.4
p.G15R
c.43G>C
1 paper
NM_001151.4
p.G15fs
c.43_44fs
1 paper
NM_001151.4
p.A14A
c.42C>G
1 paper
NM_001151.4
p.I29N
c.86T>A
1 paper
NM_001151.4
p.A14V
c.41C>T
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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."