Varaico: Literature-Extracted Genetic Variants

Gene:ADH1A
Variant:p.H52R

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.H52R
c.155A>G
Surrounding Variants
1 paper
NM_000667.4
p.G48D
c.143G>A
1 paper
NM_000667.4
p.C47*
c.141T>A
1 paper
NM_000667.4
p.T57T
c.171C>A
2 papers
NM_000667.4
p.G45E
c.134G>A
1 paper
NM_000667.4
p.T60S
c.178A>T
1 paper
NM_000667.4
p.V44E
c.131T>A
1 paper
NM_000667.4
p.V44I
c.130G>A
1 paper
NM_000667.4
p.L62F
c.184C>T
1 paper
NM_000667.4
p.L62R
c.185T>G
1 paper
NM_000667.4
p.V64E
c.191T>A
1 paper
NM_000667.4
p.V64V
c.192G>A
1 paper
NM_000667.4
p.I65N
c.194T>A
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