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

2 papers

NM_000387.6

p.A227V

c.680C>T

Surrounding Variants

1 paper

NM_000387.6

p.V226L

c.676G>T

1 paper

NM_000387.6

p.V226M

c.676G>A

1 paper

NM_000387.6

p.P229S

c.685C>T

1 paper

NM_000387.6

p.A225V

c.674C>T

1 paper

NM_000387.6

p.A225fs

c.673_674fs

1 paper

NM_000387.6

p.A225S

c.673G>T

2 papers

NM_000387.6

p.P230L

c.689C>T

2 papers

NM_000387.6

p.P230R

c.689C>G

6 papers

NM_000387.6

p.D231H

c.691G>C

2 papers

NM_000387.6

p.D231A

c.692A>C

1 paper

NM_000387.6

p.D231E

c.693T>A

1 paper

NM_000387.6

p.V232A

c.695T>C