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

1–12 of 294 variants

44 papers

NM_000387.6

p.E66_G67Splc

c.199-10T>G

13 papers

NM_000387.6

p.Q238R

c.713A>G

10 papers

NM_000387.6

p.M1V

c.1A>G

10 papers

NM_000387.6

p.F90delFs

c.270delG

9 papers

NM_000387.6

p.G81R

c.241G>A

9 papers

NM_000387.6

p.R166*

c.496C>T

8 papers

NM_000387.6

p.G28C

c.82G>T

8 papers

NM_000387.6

p.R178*

c.532C>T

8 papers

NM_000387.6

p.W192*

c.576G>A

7 papers

NM_000387.6

p.P50H

c.149C>A

6 papers

NM_000387.6

p.G28delFs

c.84delA

6 papers

NM_000387.6

p.K35_V36Splc

c.106-2A>T