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

2 papers

NM_000387.6

p.R236insFs

c.706_707insT

Surrounding Variants

2 papers

NM_000387.6

p.R236*

c.706C>T

1 paper

NM_000387.6

p.R236fs

c.706_707fs

1 paper

NM_000387.6

p.R236L

c.707G>T

1 paper

NM_000387.6

p.R236Q

c.707G>A

1 paper

NM_000387.6

p.Q238L

c.713A>T

13 papers

NM_000387.6

p.Q238R

c.713A>G

1 paper

NM_000387.6

p.L233P

c.698T>C

1 paper

NM_000387.6

p.L233F

c.697C>T

1 paper

NM_000387.6

p.V232A

c.695T>C

1 paper

NM_000387.6

p.A240T

c.718G>A

1 paper

NM_000387.6

p.D231E

c.693T>A

4 papers

NM_000387.6

p.A240Splc

c.718+1G>C