Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.P411L

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
6 papers
NM_001182.5
p.P411L
c.1232C>T
Surrounding Variants
3 papers
NM_001182.5
p.T412A
c.1234A>G
3 papers
NM_001182.5
p.Y408*
c.1224T>G
2 papers
NM_001182.5
p.Y408*
c.1224T>A
1 paper
NM_001182.5
p.N407K
c.1221T>G
1 paper
NM_001182.5
p.N407K
c.1221T>A
1 paper
NM_001182.5
p.D403_G406insFs
c.1207_1217dup11
4 papers
NM_001182.5
p.G406R
c.1216G>C
4 papers
NM_001182.5
p.G406R
c.1216G>A
1 paper
NM_001182.5
p.L417Fs
c.1251delinsAAAFs
1 paper
NM_001182.5
p.L417Fs
c.1251delinsTTFs
1 paper
NM_001182.5
p.R404C
c.1210C>T
2 papers
NM_001182.5
p.M402insFs
c.1204dupA
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