Varaico: Literature-Extracted Genetic Variants

Gene:ADH1A
Variant:p.L201P

ADH1A

204 papers

RefSeq Summary

This gene encodes a member of the alcohol dehydrogenase family. The encoded protein is the alpha subunit of class I alcohol dehydrogenase, which consists of several homo- and heterodimers of alpha, be...

Pfam Domains

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

Gene Aliases

HGNC Name

alcohol dehydrogenase 1A (class I), alpha polypeptide

HGNC Previous Symbol

ADH1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000667.4
p.L201P
c.602T>C
Surrounding Variants
1 paper
NM_000667.4
p.G205S
c.613G>A
1 paper
NM_000667.4
p.L206P
c.617T>C
1 paper
NM_000667.4
p.S207F
c.620C>T
1 paper
NM_000667.4
p.A208V
c.623C>T
1 paper
NM_000667.4
p.M210T
c.629T>C
1 paper
NM_000667.4
p.P192A
c.574C>G
1 paper
NM_000667.4
p.V190I
c.568G>A
1 paper
NM_000667.4
p.A215P
c.643G>C
1 paper
NM_000667.4
p.A222T
c.664G>A
1 paper
NM_000667.4
p.K227Q
c.679A>C
1 paper
NM_000667.4
p.D228V
c.683A>T
2 papers
NM_000667.4
p.A238T
c.712G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."