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

1–12 of 53 variants

3 papers

NM_144650.3

p.C449R

c.1345T>C

2 papers

NM_144650.3

p.A5V

c.14C>T

2 papers

NM_144650.3

p.R6*

c.16C>T

2 papers

NM_144650.3

p.R259Q

c.776G>A

1 paper

NM_144650.3

p.A2insFs

c.4_5insC

1 paper

NM_144650.3

p.R8L

c.23G>T

1 paper

NM_144650.3

p.L12L

c.34T>C

1 paper

NM_144650.3

p.L12insFs

c.34_35insC

1 paper

NM_144650.3

p.A20Splc

c.60-1477G>C

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