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.L14V

c.40T>G

Surrounding Variants

1 paper

NM_152783.5

p.R15G

c.43C>G

1 paper

NM_152783.5

p.A11S

c.31G>T

1 paper

NM_152783.5

p.A17G

c.50C>G

1 paper

NM_152783.5

p.G19G

c.57A>G

1 paper

NM_152783.5

p.L7L

c.19C>T

1 paper

NM_152783.5

p.W24L

c.71G>T

1 paper

NM_152783.5

p.M1T

c.2T>C

1 paper

NM_152783.5

p.L47L

c.139C>T

1 paper

NM_152783.5

p.P53P

c.159C>T

7 papers

NM_152783.5

p.R55Q

c.164G>A

1 paper

NM_152783.5

p.N89K

c.267C>A

1 paper

NM_152783.5

p.N89K

c.267C>G