Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1

ALDH7A1

326 papers

RefSeq Summary

The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by al...

Pfam Domains

Aldedhaa 59–522UCSCAldehyde dehydrogenase family

Gene Aliases

HGNC Name

aldehyde dehydrogenase 7 family member A1

HGNC Previous Symbol

ATQ1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 568 variants
63 papers
NM_001182.5
p.E427Q
c.1279G>C
23 papers
NM_001182.5
p.G399R
c.1195G>C
20 papers
NM_001182.5
p.L250L
c.750G>A
20 papers
NM_001182.5
p.V278V
c.834G>A
18 papers
NM_001182.5
p.R110*
c.328C>T
18 papers
NM_001182.5
p.Y354C
c.1061A>G
17 papers
NM_001182.5
p.L336_F337Splc
c.1008+1G>A
13 papers
NM_001182.5
p.N301I
c.902A>T
13 papers
NM_001182.5
p.A322V
c.965C>T
13 papers
NM_001182.5
p.G505R
c.1513G>C
12 papers
NM_001182.5
p.Y516C
c.1547A>G
11 papers
NM_001182.5
p.L455P
c.1364T>C
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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."