Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.L336_F337Splc

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
17 papers
NM_001182.5
p.L336_F337Splc
c.1008+1G>A
Surrounding Variants
8 papers
NM_001182.5
p.R335Q
c.1004G>A
NM_001201377.2
p.R307Q
c.920G>A
8 papers
NM_001182.5
p.R335*
c.1003C>T
NM_001201377.2
p.R307*
c.919C>T
1 paper
NM_001182.5
p.R334insFs
c.1000dupA
1 paper
NM_001182.5
p.T332S
c.995C>G
1 paper
NM_001182.5
p.T332S
c.994A>T
1 paper
NM_001182.5
p.T331A
c.991A>G
1 paper
NM_001182.5
p.C330insFs
c.990dupT
1 paper
NM_001182.5
p.R329S
c.987G>T
1 paper
NM_001182.5
p.R329S
c.987G>C
2 papers
NM_001182.5
p.R329K
c.986G>A
1 paper
NM_001182.5
p.Q328delFs
c.984delC
3 papers
NM_001182.5
p.Q328R
c.983A>G
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