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

3 papers

NM_000387.6

p.C58S

c.173G>C

Surrounding Variants

1 paper

NM_000387.6

p.C58S

c.172T>A

1 paper

NM_000387.6

p.C58delFs

c.173delC

4 papers

NM_000387.6

p.F56delFs

c.168delA

1 paper

NM_000387.6

p.F56insFs

c.167_168insC

1 paper

NM_000387.6

p.F56fs

c.166_167fs

3 papers

NM_000387.6

p.R60delFs

c.179delC

1 paper

NM_000387.6

p.T55I

c.164C>T

1 paper

NM_000387.6

p.T55S

c.164C>G

1 paper

NM_000387.6

p.T55N

c.164C>A

2 papers

NM_000387.6

p.T55delFs

c.163delT

1 paper

NM_000387.6

p.K61R

c.182A>G

1 paper

NM_000387.6

p.K61fs

c.181_182fs