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

1 paper

NM_000387.6

p.L99P

c.296T>C

Surrounding Variants

1 paper

NM_000387.6

p.Q100*

c.298C>T

2 papers

NM_000387.6

p.K98*

c.292A>T

1 paper

NM_000387.6

p.Q100H

c.300A>T

2 papers

NM_000387.6

p.G94_K97del4

c.280_290del12

1 paper

NM_000387.6

p.Q101*

c.301C>T

1 paper

NM_000387.6

p.Q101Q

c.303G>A

1 paper

NM_000387.6

p.G96R

c.286G>A

1 paper

NM_000387.6

p.E105*

c.313G>T

1 paper

NM_000387.6

p.E105V

c.314A>T

1 paper

NM_000387.6

p.E105D

c.315A>T

1 paper

NM_000387.6

p.F91fs

c.271_272fs

3 papers

NM_000387.6

p.F91fs

c.271_272fs