Varaico: Literature-Extracted Genetic Variants

Gene:ADH1C
Variant:p.C133C

ADH1C

206 papers

RefSeq Summary

This gene encodes class I alcohol dehydrogenase, gamma subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ...

Pfam Domains

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

Gene Aliases

HGNC Name

alcohol dehydrogenase 1C (class I), gamma polypeptide

HGNC Previous Symbol

ADH3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000669.5
p.C133C
c.399C>T
Surrounding Variants
1 paper
NM_000669.5
p.G135G
c.405G>C
1 paper
NM_000669.5
p.P137L
c.410C>T
1 paper
NM_000669.5
p.H139H
c.417C>T
1 paper
NM_000669.5
p.G122V
c.365G>T
1 paper
NM_000669.5
p.T151T
c.453A>T
4 papers
NM_000669.5
p.P166S
c.496C>T
1 paper
NM_000669.5
p.G180A
c.539G>C
1 paper
NM_000669.5
p.K186N
c.558A>T
1 paper
NM_000669.5
p.K186N
c.558A>C
1 paper
NM_000669.5
p.K189_V190Splc
c.567+4G>A
1 paper
NM_000669.5
p.C104C
c.312T>C
1 paper
NM_000669.5
p.C98*
c.294T>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."