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

2 papers

NM_152783.5

p.C272R

c.814T>C

Surrounding Variants

2 papers

NM_152783.5

p.G285Splc

c.853+2T>C

1 paper

NM_152783.5

p.K252N

c.756G>C

1 paper

NM_152783.5

p.K252N

c.756G>T

1 paper

NM_152783.5

p.L251L

c.753G>A

3 papers

NM_152783.5

p.G233S

c.697G>A

3 papers

NM_152783.5

p.A231V

c.692C>T

5 papers

NM_152783.5

p.V228_V229Splc

c.685-2A>G

1 paper

NM_152783.5

p.V228_V229Splc

c.685-9T>C

1 paper

NM_152783.5

p.G221R

c.661G>A

1 paper

NM_152783.5

p.R215Q

c.644G>A

1 paper

NM_152783.5

p.R215*

c.643C>T

1 paper

NM_152783.5

p.R215fs

c.643_644fs