Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.Q116*

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.Q116*
c.346C>T
Surrounding Variants
1 paper
NM_001182.5
p.V114_R115delFs
c.341_344del4
1 paper
NM_001182.5
p.R115K
c.344G>A
1 paper
NM_001182.5
p.G118R
c.352G>C
1 paper
NM_001182.5
p.G118S
c.352G>A
1 paper
NM_001182.5
p.I113T
c.338T>C
2 papers
NM_001182.5
p.G118G
c.354C>T
1 paper
NM_001182.5
p.D119N
c.355G>A
1 paper
NM_001182.5
p.A120G
c.359C>G
1 paper
NM_001182.5
p.A120D
c.359C>A
1 paper
NM_001182.5
p.G111Fs
c.332delinsTTFs
6 papers
NM_001182.5
p.G111E
c.332G>A
NM_001201377.2
p.G83E
c.248G>A
1 paper
NM_001182.5
p.L121S
c.362T>C
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