Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A20
Variant:p.K35R

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.K35R
c.104A>G
Surrounding Variants
1 paper
NM_000387.6
p.K35N
c.105G>C
1 paper
NM_000387.6
p.K35_V36Splc
c.105+1G>T
1 paper
NM_000387.6
p.K35_V36Splc
c.105+1G>A
1 paper
NM_000387.6
p.D32_T33del2
c.94_98del6
1 paper
NM_000387.6
p.V34L
c.100G>C
2 papers
NM_000387.6
p.D32_T33delFs
c.94_97del4
2 papers
NM_000387.6
p.D32G
c.95A>G
2 papers
NM_000387.6
p.D32A
c.95A>C
1 paper
NM_000387.6
p.D32N
c.94G>A
1 paper
NM_000387.6
p.L31V
c.91C>G
1 paper
NM_000387.6
p.H29Q
c.87C>G
1 paper
NM_000387.6
p.H29Q
c.87C>A
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