Varaico: Literature-Extracted Genetic Variants

ADH5

180 papers

RefSeq Summary

This gene encodes a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, a...

Pfam Domains

ADH_Naa 31–162UCSCAlcohol dehydrogenase GroES-like domain

ADH_zinc_Naa 202–335UCSCZinc-binding dehydrogenase

Gene Aliases

HGNC Name

alcohol dehydrogenase 5 (class III), chi polypeptide

HGNC Previous Symbol

FDH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000671.4

p.K228Q

c.682A>C

Surrounding Variants

1 paper

NM_000671.4

p.K228R

c.683A>G

1 paper

NM_000671.4

p.F235I

c.703T>A

1 paper

NM_000671.4

p.A237S

c.709G>T

19 papers

NM_000671.4

p.R218P

c.653G>C

2 papers

NM_000671.4

p.R218Q

c.653G>A

1 paper

NM_000671.4

p.A237A

c.711C>T

1 paper

NM_000671.4

p.S217insFs

c.649_650insAT

1 paper

NM_000671.4

p.A216_S217insFs

c.648_649insAT

1 paper

NM_000671.4

p.G215V

c.644G>T

1 paper

NM_000671.4

p.G215Fs

c.643_644delinsTTTFs

1 paper

NM_000671.4

p.A214V

c.641C>T

1 paper

NM_000671.4

p.I241_N242del1

c.723_725delTTA