Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.R110*

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
18 papers
NM_001182.5
p.R110*
c.328C>T
Surrounding Variants
2 papers
NM_001182.5
p.R110Q
c.329G>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.P108Q
c.323C>A
1 paper
NM_001182.5
p.P108S
c.322C>T
1 paper
NM_001182.5
p.A107S
c.319G>T
1 paper
NM_001182.5
p.I113T
c.338T>C
3 papers
NM_001182.5
p.P106L
c.317C>T
2 papers
NM_001182.5
p.D104_I105Splc
c.313-1G>A
1 paper
NM_001182.5
p.R115K
c.344G>A
1 paper
NM_001182.5
p.V114_R115delFs
c.341_344del4
1 paper
NM_001182.5
p.Q116*
c.346C>T
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