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

1 paper

NM_152783.5

p.R215Q

c.644G>A

Surrounding Variants

1 paper

NM_152783.5

p.R215*

c.643C>T

1 paper

NM_152783.5

p.R215fs

c.643_644fs

2 papers

NM_152783.5

p.L214delFs

c.642delT

3 papers

NM_152783.5

p.R212W

c.634C>T

1 paper

NM_152783.5

p.G221R

c.661G>A

1 paper

NM_152783.5

p.G209fs

c.625_626fs

1 paper

NM_152783.5

p.A208delFs

c.624delT

3 papers

NM_152783.5

p.A208T

c.622G>A

3 papers

NM_152783.5

p.A205V

c.614C>T

2 papers

NM_152783.5

p.V204M

c.610G>A

1 paper

NM_152783.5

p.N203N

c.609C>T

1 paper

NM_152783.5

p.G201W

c.601G>T