Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.L372P

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
2 papers
NM_001182.5
p.L372P
c.1115T>C
Surrounding Variants
4 papers
NM_001182.5
p.P371L
c.1112C>T
1 paper
NM_001182.5
p.P371Q
c.1112C>A
1 paper
NM_001182.5
p.T374insFs
c.1121_1122insA
1 paper
NM_001182.5
p.G370W
c.1108G>T
1 paper
NM_001182.5
p.K375R
c.1124A>G
1 paper
NM_001182.5
p.A377T
c.1129G>A
3 papers
NM_001182.5
p.V367G
c.1100T>G
1 paper
NM_001182.5
p.V367F
c.1099G>T
1 paper
NM_001182.5
p.V367L
c.1099G>C
2 papers
NM_001182.5
p.P365Splc
c.1094-1G>C
1 paper
NM_001182.5
p.M380delFs
c.1139_1140delCA
1 paper
NM_001182.5
p.A384T
c.1150G>A
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