Varaico: Literature-Extracted Genetic Variants

D2HGDH

115 papers

RefSeq Summary

This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney...

Pfam Domains

FAD_binding_4aa 100–239UCSCFAD binding domain

FAD-oxidase_Caa 275–516UCSCFAD linked oxidases, C-terminal domain

Gene Aliases

HGNC Name

D-2-hydroxyglutarate dehydrogenase

HGNC Alias Symbols

MGC25181; D2HGD; FLJ42195

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_152783.5

p.G131V

c.392G>T

Surrounding Variants

1 paper

NM_152783.5

p.N132fs

c.394_395fs

1 paper

NM_152783.5

p.Q129H

c.387G>C

1 paper

NM_152783.5

p.Q129H

c.387G>T

1 paper

NM_152783.5

p.G131insFs

c.392dupG

1 paper

NM_152783.5

p.G131delFs

c.392delG

3 papers

NM_152783.5

p.N127K

c.381C>A

3 papers

NM_152783.5

p.N127K

c.381C>G

2 papers

NM_152783.5

p.V126M

c.376G>A

3 papers

NM_152783.5

p.A125T

c.373G>A

2 papers

NM_152783.5

p.L124P

c.371T>C

1 paper

NM_152783.5

p.V140I

c.418G>A

1 paper

NM_152783.5

p.R122fs

c.364_365fs