Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.R289G

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
2 papers
NM_001182.5
p.R289G
c.865A>G
Surrounding Variants
3 papers
NM_001182.5
p.F290S
c.869T>C
1 paper
NM_001182.5
p.G291W
c.871G>T
2 papers
NM_001182.5
p.G291Splc
c.871+1G>T
3 papers
NM_001182.5
p.G291Splc
c.871+1G>A
1 paper
NM_001182.5
p.G279_F290del12
c.835_869del36
8 papers
NM_001182.5
p.G291Splc
c.871+5G>A
1 paper
NM_001182.5
p.M285V
c.853A>G
4 papers
NM_001182.5
p.G283D
c.848G>A
1 paper
NM_001182.5
p.Q281H
c.843G>T
1 paper
NM_001182.5
p.Q281H
c.843G>C
1 paper
NM_001182.5
p.Q281delFs
c.842delT
1 paper
NM_001182.5
p.Q281fs
c.841_842fs
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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."