Varaico: Literature-Extracted Genetic Variants

Gene:ADH1A
Variant:p.I138N

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.I138N
c.413T>A
Surrounding Variants
1 paper
NM_000667.4
p.G143R
c.427G>C
1 paper
NM_000667.4
p.C133S
c.397T>A
1 paper
NM_000667.4
p.G127S
c.379G>A
1 paper
NM_000667.4
p.D126V
c.377A>T
1 paper
NM_000667.4
p.T151I
c.452C>T
1 paper
NM_000667.4
p.T123N
c.368C>A
1 paper
NM_000667.4
p.T123A
c.367A>G
1 paper
NM_000667.4
p.D154E
c.462T>A
1 paper
NM_000667.4
p.Q121Q
c.363G>A
1 paper
NM_000667.4
p.E155G
c.464A>G
1 paper
NM_000667.4
p.D116V
c.347A>T
1 paper
NM_000667.4
p.D116G
c.347A>G
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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."