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

1–12 of 147 variants

19 papers

NM_000671.4

p.R218P

c.653G>C

11 papers

NM_000671.4

p.W322*

c.965G>A

11 papers

NM_000671.4

p.W322*

c.966G>A

11 papers

NM_000671.4

p.W322delFs

c.966delC

10 papers

NM_000671.4

p.A278P

c.832G>C

9 papers

NM_000671.4

p.D245N

c.733G>A

8 papers

NM_000671.4

p.K188_L189Splc

c.564+1G>A

5 papers

NM_000671.4

p.G311D

c.932G>A

4 papers

NM_000671.4

p.T303T

c.909T>G

3 papers

NM_000671.4

p.L163insFs

c.488_489insA

3 papers

NM_000671.4

p.V207insFs

c.620_621insG

3 papers

NM_000671.4

p.V309I

c.925G>A