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.S471N

c.1412G>A

Surrounding Variants

1 paper

NM_152783.5

p.A474T

c.1420G>A

3 papers

NM_152783.5

p.A474V

c.1421C>T

1 paper

NM_152783.5

p.E475K

c.1423G>A

1 paper

NM_152783.5

p.E475A

c.1424A>C

4 papers

NM_152783.5

p.G477R

c.1429G>A

4 papers

NM_152783.5

p.G477R

c.1429G>C

1 paper

NM_152783.5

p.G477A

c.1430G>C

1 paper

NM_001287249.2

p.R347W

c.1039A>T

1 paper

NM_152783.5

p.P459P

c.1377C>A

1 paper

NM_152783.5

p.A455T

c.1363G>A

2 papers

NM_152783.5

p.L453F

c.1357C>T

1 paper

NM_152783.5

p.P492L

c.1475C>T