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.Q48R

c.143A>G

Surrounding Variants

1 paper

NM_000387.6

p.P50insFs

c.148_149insG

7 papers

NM_000387.6

p.P50H

c.149C>A

3 papers

NM_000387.6

p.P46S

c.136C>T

1 paper

NM_000387.6

p.M51insFs

c.152_153insCA

1 paper

NM_000387.6

p.M51T

c.152T>C

1 paper

NM_000387.6

p.Y52C

c.155A>G

1 paper

NM_000387.6

p.P43L

c.128C>T

1 paper

NM_000387.6

p.G54W

c.160G>T

3 papers

NM_000387.6

p.S53insFs

c.159dupT

1 paper

NM_000387.6

p.P42Q

c.125C>A

1 paper

NM_000387.6

p.Q41Q

c.123G>A

1 paper

NM_000387.6

p.T55A

c.163A>G