Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A20
Variant:p.H29R

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.H29R
c.86A>G
Surrounding Variants
1 paper
NM_000387.6
p.H29Y
c.85C>T
1 paper
NM_000387.6
p.H29Q
c.87C>G
1 paper
NM_000387.6
p.H29D
c.85C>G
1 paper
NM_000387.6
p.H29Q
c.87C>A
1 paper
NM_000387.6
p.H29N
c.85C>A
6 papers
NM_000387.6
p.G28delFs
c.84delA
8 papers
NM_000387.6
p.G28C
c.82G>T
1 paper
NM_000387.6
p.G28R
c.82G>C
1 paper
NM_000387.6
p.L31V
c.91C>G
1 paper
NM_000387.6
p.V27I
c.79G>A
1 paper
NM_000387.6
p.D32N
c.94G>A
2 papers
NM_000387.6
p.F26_V27insFs
c.78_79insT
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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."