Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.A430V

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
Selected Variant
1 paper
NM_001182.5
p.A430V
c.1289C>T
Surrounding Variants
6 papers
NM_001182.5
p.P431L
c.1292C>T
5 papers
NM_001182.5
p.E427D
c.1281G>T
5 papers
NM_001182.5
p.E427D
c.1281G>C
7 papers
NM_001182.5
p.E427G
c.1280A>G
NM_001201377.2
p.E399G
c.1196A>G
65 papers
NM_001182.5
p.E427Q
c.1279G>C
NM_001201377.2
p.E399Q
c.1195G>C
1 paper
NM_001182.5
p.E427K
c.1279G>A
3 papers
NM_001182.5
p.Y434fs
c.1300_1301fs
4 papers
NM_001182.5
p.Y434C
c.1301A>G
2 papers
NM_001182.5
p.L433_Y434delFs
c.1297_1300del4
1 paper
NM_001182.5
p.T426A
c.1276A>G
3 papers
NM_001182.5
p.T426P
c.1276A>C
3 papers
NM_001182.5
p.Y434delFs
c.1301_1302delAT
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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."