Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A20
Variant:p.A87V

SLC25A20

434 papers

RefSeq Summary

This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the t...

Pfam Domains

Mito_carraa 6–104UCSCMitochondrial carrier protein
Mito_carraa 106–201UCSCMitochondrial carrier protein
Mito_carraa 205–297UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 20

HGNC Previous Symbol

CACT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000387.6
p.A87V
c.260C>T
Surrounding Variants
1 paper
NM_000387.6
p.C89S
c.265T>A
1 paper
NM_000387.6
p.C89S
c.266G>C
1 paper
NM_000387.6
p.F90F
c.270C>T
1 paper
NM_000387.6
p.T83T
c.249T>C
3 papers
NM_000387.6
p.F91fs
c.271_272fs
10 papers
NM_000387.6
p.F90delFs
c.270delG
1 paper
NM_000387.6
p.F91fs
c.271_272fs
1 paper
NM_000387.6
p.V82A
c.245T>C
2 papers
NM_000387.6
p.V82I
c.244G>A
1 paper
NM_000387.6
p.G81G
c.243G>T
6 papers
NM_000387.6
p.G81R
c.241G>C
9 papers
NM_000387.6
p.G81R
c.241G>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."