Varaico: Literature-Extracted Genetic Variants

Gene:ADH1B
Variant:p.H48R

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
78 papers
NM_000668.6
p.H48R
c.143A>G
Surrounding Variants
1 paper
NM_000668.6
p.H48P
c.143A>C
1 paper
NM_000668.6
p.H48H
c.144C>T
1 paper
NM_000668.6
p.H48Y
c.142C>T
1 paper
NM_000668.6
p.V44L
c.130G>C
1 paper
NM_000668.6
p.V44I
c.130G>A
1 paper
NM_000668.6
p.G56insFs
c.166dupG
1 paper
NM_000668.6
p.N57Y
c.169A>T
3 papers
NM_000668.6
p.N57K
c.171C>G
4 papers
NM_000668.6
p.N57K
c.171C>A
8 papers
NM_000668.6
p.T60S
c.178A>T
7 papers
NM_000668.6
p.T60S
c.179C>G
1 paper
NM_000668.6
p.P63S
c.187C>T
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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."