Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.Y434fs

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
3 papers
NM_001182.5
p.Y434fs
c.1300_1301fs
Surrounding Variants
4 papers
NM_001182.5
p.Y434C
c.1301A>G
2 papers
NM_001182.5
p.L433_Y434delFs
c.1297_1300del4
3 papers
NM_001182.5
p.Y434delFs
c.1301_1302delAT
6 papers
NM_001182.5
p.P431L
c.1292C>T
1 paper
NM_001182.5
p.A430V
c.1289C>T
4 papers
NM_001182.5
p.F438L
c.1312T>C
NM_001201377.2
p.F410L
c.1228T>C
4 papers
NM_001182.5
p.F438L
c.1314C>G
NM_001201377.2
p.F410L
c.1230C>G
4 papers
NM_001182.5
p.F438L
c.1314C>A
NM_001201377.2
p.F410L
c.1230C>A
1 paper
NM_001182.5
p.K439*
c.1315A>T
9 papers
NM_001182.5
p.K439Q
c.1315A>C
5 papers
NM_001182.5
p.E427D
c.1281G>T
5 papers
NM_001182.5
p.E427D
c.1281G>C
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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."