Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.P362S

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.P362S
c.1084C>T
Surrounding Variants
3 papers
NM_001182.5
p.W363*
c.1088G>A
2 papers
NM_001182.5
p.W363*
c.1089G>A
1 paper
NM_001182.5
p.G360R
c.1078G>C
6 papers
NM_001182.5
p.P365Splc
c.1093+1G>A
4 papers
NM_001201377.2
p.R330*
c.988C>T
NM_001182.5
p.R358*
c.1072C>T
2 papers
NM_001182.5
p.P365Splc
c.1093+5G>T
1 paper
NM_001182.5
p.Q356E
c.1066C>G
1 paper
NM_001182.5
p.A355T
c.1063G>A
18 papers
NM_001182.5
p.Y354C
c.1061A>G
1 paper
NM_001182.5
p.Y354S
c.1061A>C
1 paper
NM_001182.5
p.A353Fs
c.1059delinsTTFs
1 paper
NM_001182.5
p.K352delFs
c.1054_1055delTT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."