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

44 papers

NM_000387.6

p.E66_G67Splc

c.199-10T>G

Surrounding Variants

3 papers

NM_000387.6

p.E66_G67Splc

c.199-10T>C

2 papers

NM_000387.6

p.E66_G67Splc

c.199-2A>C

1 paper

NM_000387.6

p.G67S

c.199G>A

1 paper

NM_000387.6

p.I68N

c.203T>A

1 paper

NM_000387.6

p.G70W

c.208G>T

1 paper

NM_000387.6

p.G70G

c.210G>A

1 paper

NM_000387.6

p.G74R

c.220G>A

1 paper

NM_000387.6

p.G74G

c.222A>G

1 paper

NM_000387.6

p.A76T

c.226G>A

1 paper

NM_000387.6

p.A76D

c.227C>A

1 paper

NM_000387.6

p.A77V

c.230C>T

1 paper

NM_000387.6

p.A77D

c.230C>A