Varaico: Literature-Extracted Genetic Variants

Gene:ADH1B
Variant:p.W16*

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
5 papers
NM_000668.6
p.W16*
c.48G>A
Surrounding Variants
1 paper
NM_000668.6
p.W16L
c.47G>T
1 paper
NM_000668.6
p.W16*
c.47G>A
1 paper
NM_000668.6
p.W16R
c.46T>C
1 paper
NM_000668.6
p.W16R
c.46T>A
1 paper
NM_000668.6
p.K20*
c.58A>T
1 paper
NM_000668.6
p.A12S
c.34G>T
1 paper
NM_000668.6
p.S23F
c.68C>T
1 paper
NM_000668.6
p.I8M
c.24C>G
2 papers
NM_000668.6
p.D26G
c.77A>G
1 paper
NM_000668.6
p.V29F
c.85G>T
1 paper
NM_000668.6
p.A34fs
c.100_101fs
1 paper
NM_000668.6
p.Y35D
c.103T>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."