Varaico: Literature-Extracted Genetic Variants

Gene:ADH1A
Variant:p.A184delFs

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
2 papers
NM_000667.4
p.A184delFs
c.552delT
Surrounding Variants
1 paper
NM_000667.4
p.V185G
c.554T>G
1 paper
NM_000667.4
p.A184fs
c.550_551fs
1 paper
NM_000667.4
p.G180R
c.538G>C
1 paper
NM_000667.4
p.I173F
c.517A>T
1 paper
NM_000667.4
p.I161delFs
c.483delA
1 paper
NM_000667.4
p.I161fs
c.481_482fs
1 paper
NM_000667.4
p.E155G
c.464A>G
1 paper
NM_000667.4
p.D154E
c.462T>A
1 paper
NM_000667.4
p.T151I
c.452C>T
1 paper
NM_000667.4
p.G143R
c.427G>C
1 paper
NM_000667.4
p.I138N
c.413T>A
1 paper
NM_000667.4
p.C133S
c.397T>A
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