Varaico: Literature-Extracted Genetic Variants

ADHFE1

67 papers

RefSeq Summary

The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[s...

Pfam Domains

Fe-ADHaa 52–225UCSCIron-containing alcohol dehydrogenase

ADH_Fe_Caa 271–464UCSCFe-containing alcohol dehydrogenase family, C-terminal

Gene Aliases

HGNC Name

alcohol dehydrogenase iron containing 1

HGNC Alias Symbol

FLJ32430

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_144650.3

p.A20Splc

c.60-1477G>C

Surrounding Variants

1 paper

NM_144650.3

p.P34S

c.100C>T

1 paper

NM_144650.3

p.G40V

c.119G>T

1 paper

NM_144650.3

p.M66_D67Splc

c.198+1G>T

1 paper

NM_144650.3

p.L78F

c.234G>T

1 paper

NM_144650.3

p.M79I

c.237G>A

1 paper

NM_144650.3

p.M79I

c.237G>C

1 paper

NM_144650.3

p.M79I

c.237G>T

1 paper

NM_144650.3

p.N83S

c.248A>G

1 paper

NM_144650.3

p.P89T

c.265C>A

1 paper

NM_144650.3

p.V90L

c.268G>C

1 paper

NM_144650.3

p.V90L

c.268G>T

1 paper

NM_144650.3

p.T115A

c.343A>G