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

1 paper

NM_003562.5

p.L99P

c.296T>C

Surrounding Variants

1 paper

NM_003562.5

p.G100C

c.298G>T

1 paper

NM_003562.5

p.R98H

c.293G>A

1 paper

NM_003562.5

p.R98C

c.292C>T

1 paper

NM_003562.5

p.I101N

c.302T>A

1 paper

NM_003562.5

p.T97S

c.290C>G

1 paper

NM_003562.5

p.I101I

c.303C>T

1 paper

NM_003562.5

p.T97S

c.289A>T

1 paper

NM_003562.5

p.Y94C

c.281A>G

1 paper

NM_003562.5

p.F106L

c.316T>C

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.R90C

c.268C>T