Varaico: Literature-Extracted Genetic Variants

Gene:ADH1B
Variant:p.Q252H

ADH1B

286 papers

RefSeq Summary

The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alc...

Pfam Domains

ADH_Naa 33–163UCSCAlcohol dehydrogenase GroES-like domain
ADH_zinc_Naa 203–339UCSCZinc-binding dehydrogenase

Gene Aliases

HGNC Name

alcohol dehydrogenase 1B (class I), beta polypeptide

HGNC Previous Symbol

ADH2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000668.6
p.Q252H
c.756G>C
Surrounding Variants
1 paper
NM_000668.6
p.Q252H
c.756G>T
2 papers
NM_000668.6
p.I251I
c.753T>C
1 paper
NM_000668.6
p.P250L
c.749C>T
1 paper
NM_000668.6
p.P250H
c.749C>A
1 paper
NM_000668.6
p.K248R
c.743A>G
1 paper
NM_000668.6
p.Q245*
c.733C>T
1 paper
NM_000668.6
p.Q245E
c.733C>G
1 paper
NM_000668.6
p.D264N
c.790G>A
1 paper
NM_000668.6
p.F265insFs
c.794_795ins4
1 paper
NM_000668.6
p.V269I
c.805G>A
1 paper
NM_000668.6
p.E235V
c.704A>T
1 paper
NM_000668.6
p.V269_I270delFs
c.805_808del4
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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."