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.R115Splc

c.345-14T>A

Surrounding Variants

2 papers

NM_000671.4

p.R115K

c.344G>A

2 papers

NM_000671.4

p.R115S

c.345A>T

2 papers

NM_000671.4

p.R115S

c.345A>C

1 paper

NM_000671.4

p.L122insFs

c.365dupT

1 paper

NM_000671.4

p.P124S

c.370C>T

1 paper

NM_000671.4

p.P124del1

c.370_372delTGG

1 paper

NM_000671.4

p.G126C

c.376G>T

1 paper

NM_000671.4

p.D125_G126delFs

c.374_378del5

1 paper

NM_000671.4

p.T131A

c.391A>G

2 papers

NM_000671.4

p.T136I

c.407C>T

1 paper

NM_000671.4

p.T143A

c.427A>G

1 paper

NM_000671.4

p.S144T

c.431G>C