Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.L417Fs

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.L417Fs
c.1251delinsAAAFs
Surrounding Variants
1 paper
NM_001182.5
p.L417Fs
c.1251delinsTTFs
2 papers
NM_001182.5
p.D420E
c.1260T>A
3 papers
NM_001182.5
p.A421V
c.1262C>T
3 papers
NM_001182.5
p.T412A
c.1234A>G
1 paper
NM_001182.5
p.I423M
c.1269T>G
1 paper
NM_001182.5
p.A424P
c.1270G>C
1 paper
NM_001182.5
p.A424T
c.1270G>A
6 papers
NM_001182.5
p.P411L
c.1232C>T
1 paper
NM_001182.5
p.H425Y
c.1273C>T
2 papers
NM_001182.5
p.H425R
c.1274A>G
1 paper
NM_001182.5
p.T426A
c.1276A>G
3 papers
NM_001182.5
p.T426P
c.1276A>C
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