Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.Q453delFs

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.Q453delFs
c.1358_1359delCT
Surrounding Variants
2 papers
NM_001202404.2
p.G390R
c.1168G>C
NM_001182.5
p.G454R
c.1360G>C
2 papers
NM_001202404.2
p.G390R
c.1168G>A
NM_001182.5
p.G454R
c.1360G>A
4 papers
NM_001182.5
p.Q453R
c.1358A>G
NM_001201377.2
p.Q425R
c.1274A>G
1 paper
NM_001182.5
p.Q453fs
c.1357_1358fs
11 papers
NM_001182.5
p.L455P
c.1364T>C
1 paper
NM_001182.5
p.K452N
c.1356A>T
1 paper
NM_001182.5
p.K452N
c.1356A>C
2 papers
NM_001182.5
p.S456L
c.1367C>T
2 papers
NM_001182.5
p.S456*
c.1367C>G
1 paper
NM_001182.5
p.S456*
c.1367C>A
2 papers
NM_001182.5
p.S457I
c.1370G>T
1 paper
NM_001182.5
p.N449_E450ins1
c.1347_1348insAAC
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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."