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.T228S

c.682A>T

Surrounding Variants

1 paper

NM_144650.3

p.T228S

c.683C>G

1 paper

NM_144650.3

p.H227Y

c.679C>T

1 paper

NM_144650.3

p.V235L

c.703G>C

1 paper

NM_144650.3

p.V235L

c.703G>T

1 paper

NM_144650.3

p.P218S

c.652C>T

1 paper

NM_144650.3

p.S239G

c.715A>G

1 paper

NM_144650.3

p.D242H

c.724G>C

1 paper

NM_144650.3

p.S188_G189delins

c.564_565delinsCA

1 paper

NM_144650.3

p.A247S

c.739G>T

1 paper

NM_144650.3

p.L248Q

c.743T>A

1 paper

NM_144650.3

p.E249Q

c.745G>C

1 paper

NM_144650.3

p.L254L

c.760C>T