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.G438C

c.1312G>T

Surrounding Variants

9 papers

NM_152783.5

p.N439D

c.1315A>G

1 paper

NM_152783.5

p.N439Y

c.1315A>T

2 papers

NM_152783.5

p.G436V

c.1307G>T

1 paper

NM_152783.5

p.N443S

c.1328A>G

10 papers

NM_152783.5

p.V444A

c.1331T>C

2 papers

NM_152783.5

p.T445delFs

c.1333_1334delAC

1 paper

NM_152783.5

p.T445fs

c.1333_1334fs

1 paper

NM_152783.5

p.A446T

c.1336G>A

4 papers

NM_152783.5

p.A446V

c.1337C>T

1 paper

NM_152783.5

p.E447K

c.1339G>A

2 papers

NM_152783.5

p.L453F

c.1357C>T

1 paper

NM_152783.5

p.A455T

c.1363G>A