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

8 papers

NM_000387.6

p.R178*

c.532C>T

Surrounding Variants

1 paper

NM_000387.6

p.R178insFs

c.533_534insT

1 paper

NM_000387.6

p.R178Q

c.533G>A

2 papers

NM_000387.6

p.D179N

c.535G>A

1 paper

NM_000387.6

p.L176delFs

c.528delA

1 paper

NM_000387.6

p.D179Splc

c.535+1G>A

1 paper

NM_000387.6

p.D179Splc

c.535+6C>T

1 paper

NM_000387.6

p.L174P

c.521T>C

1 paper

NM_000387.6

p.V173del1

c.517_518delCAC

1 paper

NM_000387.6

p.V173_L174ins1

c.519_520insATC

1 paper

NM_000387.6

p.T172T

c.516T>C

1 paper

NM_000387.6

p.G171G

c.513G>A

1 paper

NM_000387.6

p.G171insFs

c.512_513ins4