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.R410Q

c.1229G>A

Surrounding Variants

1 paper

NM_152783.5

p.V408G

c.1223T>G

1 paper

NM_152783.5

p.P407S

c.1219C>T

1 paper

NM_152783.5

p.D403N

c.1207G>A

1 paper

NM_152783.5

p.R419C

c.1255C>T

4 papers

NM_152783.5

p.R419H

c.1256G>A

1 paper

NM_152783.5

p.R419L

c.1256G>T

2 papers

NM_152783.5

p.Y400*

c.1200C>A

2 papers

NM_152783.5

p.Y400*

c.1200C>G

3 papers

NM_152783.5

p.A420T

c.1258G>A

1 paper

NM_001287249.2

p.Y266C

c.797A>G

2 papers

NM_152783.5

p.R421H

c.1262G>A

1 paper

NM_152783.5

p.R421P

c.1262G>C