Varaico: Literature-Extracted Genetic Variants

SLC25A11

52 papers

RefSeq Summary

The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., ...

Pfam Domains

Mito_carraa 18–112UCSCMitochondrial carrier protein

Mito_carraa 115–213UCSCMitochondrial carrier protein

Mito_carraa 215–310UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 11

HGNC Previous Symbol

SLC20A4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003562.5

p.A123D

c.368C>A

Surrounding Variants

1 paper

NM_003562.5

p.K122R

c.365A>G

1 paper

NM_003562.5

p.G126C

c.376G>T

1 paper

NM_003562.5

p.G118C

c.352G>T

1 paper

NM_003562.5

p.G130C

c.388G>T

1 paper

NM_003562.5

p.G133C

c.397G>T

1 paper

NM_003562.5

p.F106L

c.318T>G

1 paper

NM_003562.5

p.F106L

c.318T>A

1 paper

NM_003562.5

p.F106L

c.316T>C

1 paper

NM_003562.5

p.E141K

c.421G>A

1 paper

NM_003562.5

p.E141D

c.423A>T

1 paper

NM_003562.5

p.E141D

c.423A>C

1 paper

NM_003562.5

p.I101I

c.303C>T