Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.L250L

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
20 papers
NM_001182.5
p.L250L
c.750G>A
Surrounding Variants
3 papers
NM_001182.5
p.L250delFs
c.749delA
1 paper
NM_001182.5
p.L250delFs
c.748_749delAA
1 paper
NM_001182.5
p.T251I
c.752C>T
1 paper
NM_001182.5
p.G254_A255delFs
c.760_763del4
1 paper
NM_001182.5
p.P244R
c.731C>G
1 paper
NM_001182.5
p.P244T
c.730C>A
1 paper
NM_001182.5
p.G258Splc
c.773+5G>T
1 paper
NM_001182.5
p.G258Splc
c.773+5G>A
2 papers
NM_001182.5
p.L238L
c.712C>T
2 papers
NM_001182.5
p.K232Splc
c.696-1G>T
2 papers
NM_001182.5
p.K232Splc
c.696-2A>G
4 papers
NM_001182.5
p.K232Splc
c.696-502G>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."