Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A20
Variant:p.M1V

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
10 papers
NM_000387.6
p.M1V
c.1A>G
Surrounding Variants
2 papers
NM_000387.6
p.M1L
c.1A>T
1 paper
NM_000387.6
p.M1R
c.2T>G
1 paper
NM_000387.6
p.M1T
c.2T>C
1 paper
NM_000387.6
p.M1I
c.3G>T
1 paper
NM_000387.6
p.M1I
c.3G>C
3 papers
NM_000387.6
p.M1I
c.3G>A
2 papers
NM_000387.6
p.A2T
c.4G>A
1 paper
NM_000387.6
p.A2V
c.5C>T
1 paper
NM_000387.6
p.A2insFs
c.4_5insGG
1 paper
NM_000387.6
p.D3H
c.7G>C
1 paper
NM_000387.6
p.Q4*
c.10C>T
1 paper
NM_000387.6
p.Q4L
c.11A>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."