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.Q41*

c.121C>T

Surrounding Variants

1 paper

NM_000387.6

p.Q41Q

c.123G>A

1 paper

NM_000387.6

p.P42Q

c.125C>A

1 paper

NM_000387.6

p.P43L

c.128C>T

1 paper

NM_000387.6

p.R37P

c.110G>C

4 papers

NM_000387.6

p.R37*

c.109C>T

1 paper

NM_000387.6

p.V36insFs

c.107_108insT

1 paper

NM_000387.6

p.V36L

c.106G>C

3 papers

NM_000387.6

p.P46S

c.136C>T

1 paper

NM_000387.6

p.K35_V36Splc

c.106-1G>T

6 papers

NM_000387.6

p.K35_V36Splc

c.106-2A>T

1 paper

NM_000387.6

p.K35_V36Splc

c.106-2A>G

1 paper

NM_000387.6

p.Q48R

c.143A>G