Varaico: Literature-Extracted Genetic Variants

Gene:ADH1B

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
1–12 of 121 variants
78 papers
NM_000668.6
p.H48R
c.143A>G
43 papers
NM_000668.6
p.R370C
c.1108C>T
8 papers
NM_000668.6
p.T60S
c.178A>T
7 papers
NM_000668.6
p.T60S
c.179C>G
5 papers
NM_000668.6
p.W16*
c.48G>A
5 papers
NM_000668.6
p.R272Q
c.815G>A
5 papers
NM_000668.6
p.F341L
c.1021T>C
5 papers
NM_000668.6
p.F341L
c.1023T>G
5 papers
NM_000668.6
p.F341L
c.1023T>A
4 papers
NM_000668.6
p.N57K
c.171C>A
4 papers
NM_000668.6
p.R370H
c.1109G>A
3 papers
NM_000668.6
p.N57K
c.171C>G
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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."