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

9 papers

NM_000387.6

p.R166*

c.496C>T

Surrounding Variants

1 paper

NM_000387.6

p.G167R

c.499G>C

1 paper

NM_000387.6

p.G167D

c.500G>A

1 paper

NM_000387.6

p.Y160_E162del3

c.478_485del9

2 papers

NM_000387.6

p.Y169insFs

c.505dupT

1 paper

NM_000387.6

p.Q161*

c.481C>T

1 paper

NM_000387.6

p.G171insFs

c.512_513ins4

1 paper

NM_000387.6

p.G171E

c.512G>A

1 paper

NM_000387.6

p.G171G

c.513G>A

3 papers

NM_000387.6

p.L159P

c.476T>C

1 paper

NM_000387.6

p.T172T

c.516T>C

1 paper

NM_000387.6

p.V173_L174ins1

c.519_520insATC

1 paper

NM_000387.6

p.V173del1

c.517_518delCAC