Varaico: Literature-Extracted Genetic Variants

Gene:ADH5
Variant:p.L163insFs

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
3 papers
NM_000671.4
p.L163insFs
c.488_489insA
Surrounding Variants
1 paper
NM_000671.4
p.L163S
c.488T>C
1 paper
NM_000671.4
p.L163insFs
c.487_488insA
1 paper
NM_000671.4
p.A164V
c.491C>T
1 paper
NM_000671.4
p.D161N
c.481G>A
1 paper
NM_000671.4
p.D167Y
c.499G>T
1 paper
NM_000671.4
p.D154_A158delFs
c.460_473del14
1 paper
NM_000671.4
p.I155L
c.463A>C
1 paper
NM_000671.4
p.C174S
c.520T>A
1 paper
NM_000671.4
p.C174S
c.521G>C
1 paper
NM_000671.4
p.S147C
c.440C>G
1 paper
NM_000671.4
p.S144T
c.431G>C
1 paper
NM_000671.4
p.A182V
c.545C>T
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."