Varaico: Literature-Extracted Genetic Variants

Gene:ADH1A
Variant:p.T239A

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.T239A
c.715A>G
Surrounding Variants
2 papers
NM_000667.4
p.A238T
c.712G>A
1 paper
NM_000667.4
p.C241S
c.721T>A
2 papers
NM_000667.4
p.Q245R
c.734A>G
1 paper
NM_000667.4
p.Y247Y
c.741C>T
1 paper
NM_000667.4
p.D228V
c.683A>T
1 paper
NM_000667.4
p.P250L
c.749C>T
1 paper
NM_000667.4
p.K227Q
c.679A>C
1 paper
NM_000667.4
p.A222T
c.664G>A
1 paper
NM_000667.4
p.K256N
c.768G>C
1 paper
NM_000667.4
p.E257K
c.769G>A
1 paper
NM_000667.4
p.E257G
c.770A>G
1 paper
NM_000667.4
p.G261E
c.782G>A
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