Varaico: Literature-Extracted Genetic Variants

Gene:ADH1A
Variant:p.P330S

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.P330S
c.988C>T
Surrounding Variants
1 paper
NM_000667.4
p.P330Q
c.989C>A
1 paper
NM_000667.4
p.G322D
c.965G>A
1 paper
NM_000667.4
p.F341V
c.1021T>G
2 papers
NM_000667.4
p.F341L
c.1021T>C
2 papers
NM_000667.4
p.F341L
c.1023T>G
2 papers
NM_000667.4
p.F341L
c.1023T>A
1 paper
NM_000667.4
p.P352A
c.1054C>G
1 paper
NM_000667.4
p.K355del1
c.1063_1064delTTT
1 paper
NM_000667.4
p.D361Y
c.1081G>T
1 paper
NM_000667.4
p.S368T
c.1103G>C
1 paper
NM_000667.4
p.W315*
c.945G>A
1 paper
NM_000667.4
p.W315*
c.944G>A
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