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

1–12 of 168 variants

10 papers

NM_152783.5

p.V444A

c.1331T>C

9 papers

NM_152783.5

p.V338I

c.1012G>A

9 papers

NM_152783.5

p.A426T

c.1276G>A

9 papers

NM_152783.5

p.N439D

c.1315A>G

8 papers

NM_152783.5

p.I147S

c.440T>G

8 papers

NM_152783.5

p.D375Y

c.1123G>T

7 papers

NM_152783.5

p.R55Q

c.164G>A

6 papers

NM_152783.5

p.G98Splc

c.293-23A>G

6 papers

NM_152783.5

p.M153T

c.458T>C

5 papers

NM_152783.5

p.V228_V229Splc

c.685-2A>G

5 papers

NM_152783.5

p.G355S

c.1063G>A

5 papers

NM_152783.5

p.A361V

c.1082C>T