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

6 papers

NM_152783.5

p.G98Splc

c.293-23A>G

Surrounding Variants

1 paper

NM_152783.5

p.C99insFs

c.295_296ins19

1 paper

NM_152783.5

p.R107Q

c.320G>A

1 paper

NM_152783.5

p.T108T

c.324G>A

2 papers

NM_152783.5

p.S109insFs

c.325_326dupTC

3 papers

NM_152783.5

p.S109W

c.326C>G

1 paper

NM_152783.5

p.E110fs

c.328_329fs

1 paper

NM_152783.5

p.H114D

c.340C>G

1 paper

NM_152783.5

p.E121K

c.361G>A

1 paper

NM_152783.5

p.R122fs

c.364_365fs

1 paper

NM_152783.5

p.R122delFs

c.365delG

2 papers

NM_152783.5

p.L124P

c.371T>C

3 papers

NM_152783.5

p.A125T

c.373G>A