Varaico: Literature-Extracted Genetic Variants

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.D179A

c.536A>C

Surrounding Variants

2 papers

NM_000387.6

p.D179G

c.536A>G

1 paper

NM_000387.6

p.D179E

c.537T>G

1 paper

NM_000387.6

p.D179E

c.537T>A

3 papers

NM_000387.6

p.D179N

c.535G>A

1 paper

NM_000387.6

p.A182G

c.545C>G

2 papers

NM_000387.6

p.G184*

c.550G>T

1 paper

NM_000387.6

p.D179Splc

c.536-18T>C

1 paper

NM_000387.6

p.M185_F187Fs

c.554_559delinsTGTGFs

2 papers

NM_000387.6

p.E191A

c.572A>C

8 papers

NM_000387.6

p.W192*

c.576G>A

1 paper

NM_000387.6

p.T198P

c.592A>C

1 paper

NM_000387.6

p.E200*

c.598G>T