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.A170A

c.510G>A

Surrounding Variants

2 papers

NM_152783.5

p.A170E

c.509C>A

2 papers

NM_152783.5

p.A170V

c.509C>T

2 papers

NM_152783.5

p.Q169P

c.506A>C

2 papers

NM_152783.5

p.Q169*

c.505C>T

4 papers

NM_152783.5

p.C172Y

c.515G>A

1 paper

NM_152783.5

p.L177_S178Fs

c.530_533delinsATTFs

2 papers

NM_152783.5

p.G164Splc

c.491-2A>G

1 paper

NM_152783.5

p.S178G

c.532A>G

1 paper

NM_152783.5

p.D185_I187Fs

c.554_559delinsTGTGFs

4 papers

NM_152783.5

p.P189L

c.566C>T

1 paper

NM_152783.5

p.G193R

c.577G>A

1 paper

NM_152783.5

p.G193R

c.577G>C