Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A20
Variant:p.G151D

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.G151D
c.452G>A
Surrounding Variants
1 paper
NM_000387.6
p.G151C
c.451G>T
1 paper
NM_000387.6
p.T152_L153insCA
c.454_458ins6
1 paper
NM_000387.6
p.T152I
c.455C>T
1 paper
NM_000387.6
p.D154Y
c.460G>T
2 papers
NM_000387.6
p.C155R
c.463T>C
1 paper
NM_000387.6
p.C155S
c.463T>A
1 paper
NM_000387.6
p.C155S
c.464G>C
1 paper
NM_000387.6
p.E146fs
c.436_437fs
1 paper
NM_000387.6
p.A142_G145insFs
c.425_434dup10
1 paper
NM_000387.6
p.K157M
c.470A>T
1 paper
NM_000387.6
p.S144delFs
c.431_432delTG
1 paper
NM_000387.6
p.S143_S144insFs
c.429_430ins4
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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."