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.L248Q

c.743T>A

Surrounding Variants

1 paper

NM_144650.3

p.E249Q

c.745G>C

1 paper

NM_144650.3

p.A247S

c.739G>T

1 paper

NM_144650.3

p.L254L

c.760C>T

2 papers

NM_144650.3

p.R259Q

c.776G>A

1 paper

NM_144650.3

p.R269W

c.805C>T

1 paper

NM_144650.3

p.R288W

c.862C>T

1 paper

NM_144650.3

p.R296G

c.886A>G

1 paper

NM_144650.3

p.R296Splc

c.888-75C>T

1 paper

NM_144650.3

p.A297T

c.889G>A

1 paper

NM_144650.3

p.I319V

c.955A>G

1 paper

NM_144650.3

p.G320S

c.958G>A

1 paper

NM_144650.3

p.D242H

c.724G>C