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.G365S

c.1093G>A

Surrounding Variants

6 papers

NM_001287249.2

p.A227V

c.680C>T

NM_152783.5

p.A361V

c.1082C>T

1 paper

NM_152783.5

p.D369D

c.1107T>C

1 paper

NM_152783.5

p.A373T

c.1117G>A

5 papers

NM_152783.5

p.G355S

c.1063G>A

8 papers

NM_152783.5

p.D375Y

c.1123G>T

1 paper

NM_152783.5

p.K353R

c.1058A>G

1 paper

NM_152783.5

p.A347T

c.1039G>A

1 paper

NM_152783.5

p.K380_M381Splc

c.1140+8G>A

1 paper

NM_152783.5

p.S345C

c.1034C>G

9 papers

NM_152783.5

p.V338I

c.1012G>A

1 paper

NM_152783.5

p.F336L

c.1008T>A

1 paper

NM_152783.5

p.F336L

c.1008T>G