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.K427E

c.1279A>G

Surrounding Variants

1 paper

NM_144650.3

p.A432fs

c.1294_1295fs

1 paper

NM_144650.3

p.D415H

c.1243G>C

1 paper

NM_144650.3

p.R408W

c.1222C>T

1 paper

NM_144650.3

p.R392H

c.1175G>A

1 paper

NM_144650.3

p.T391I

c.1172C>T

1 paper

NM_144650.3

p.T372T

c.1116G>C

1 paper

NM_144650.3

p.G320S

c.958G>A

1 paper

NM_144650.3

p.I319V

c.955A>G

1 paper

NM_144650.3

p.A297T

c.889G>A

1 paper

NM_144650.3

p.R296Splc

c.888-75C>T

3 papers

NM_144650.3

p.C449R

c.1345T>C

1 paper

NM_144650.3

p.D455N

c.1363G>A