Varaico: Literature-Extracted Genetic Variants

Gene:ADH5
Variant:p.D343G

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.D343G
c.1028A>G
Surrounding Variants
3 papers
NM_000671.4
p.V346E
c.1037T>A
1 paper
NM_000671.4
p.S337A
c.1009T>G
2 papers
NM_000671.4
p.D353E
c.1059T>G
2 papers
NM_000671.4
p.D353E
c.1059T>A
1 paper
NM_000671.4
p.E354insFs
c.1061_1062ins8
1 paper
NM_000671.4
p.E326K
c.976G>A
11 papers
NM_000671.4
p.W322delFs
c.966delC
1 paper
NM_000671.4
p.W322fs
c.964_965fs
11 papers
NM_000671.4
p.W322*
c.966G>A
11 papers
NM_000671.4
p.W322*
c.965G>A
1 paper
NM_000671.4
p.G365E
c.1094G>A
1 paper
NM_000671.4
p.S367Splc
c.1100+66G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."