Varaico: Literature-Extracted Genetic Variants

Gene:ADH1B
Variant:p.G80E

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.G80E
c.239G>A
Surrounding Variants
1 paper
NM_000668.6
p.G80R
c.238G>C
1 paper
NM_000668.6
p.G80R
c.238G>A
1 paper
NM_000668.6
p.V81fs
c.241_242fs
1 paper
NM_000668.6
p.V81delFs
c.241delC
1 paper
NM_000668.6
p.E79K
c.235G>A
2 papers
NM_000668.6
p.G78*
c.232G>T
1 paper
NM_000668.6
p.V77A
c.230T>C
1 paper
NM_000668.6
p.S76T
c.227G>C
1 paper
NM_000668.6
p.S76C
c.226A>T
1 paper
NM_000668.6
p.S76G
c.226A>G
1 paper
NM_000668.6
p.E75Q
c.223G>C
1 paper
NM_000668.6
p.V74M
c.220G>A
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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."