Varaico: Literature-Extracted Genetic Variants

Gene:ADH7
Variant:p.K55E

ADH7

101 papers

RefSeq Summary

This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including...

Pfam Domains

ADH_Naa 33–162UCSCAlcohol dehydrogenase GroES-like domain
ADH_Naa 45–174UCSCAlcohol dehydrogenase GroES-like domain
ADH_zinc_Naa 214–350UCSCZinc-binding dehydrogenase

Gene Aliases

HGNC Name

alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide

HGNC Alias Symbol

ADH-4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000673.7
p.K55E
c.163A>G
Surrounding Variants
1 paper
NM_000673.7
p.I54_K55insFs
c.162_163dupAA
2 papers
NM_000673.7
p.G56R
c.166G>C
2 papers
NM_000673.7
p.G56R
c.166G>A
1 paper
NM_000673.7
p.M58I
c.174G>C
1 paper
NM_000673.7
p.S60Y
c.179C>A
3 papers
NM_000673.7
p.T49I
c.146C>T
1 paper
NM_000673.7
p.K61T
c.182A>C
1 paper
NM_000673.7
p.R48H
c.143G>A
2 papers
NM_000673.7
p.H68Y
c.202C>T
1 paper
NM_000673.7
p.T71S
c.212C>G
1 paper
NM_000673.7
p.G72R
c.214G>C
1 paper
NM_000673.7
p.G72R
c.214G>A
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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."