Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.F320L

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.F320L
c.958T>C
Surrounding Variants
1 paper
NM_001182.5
p.F320F
c.960C>T
2 papers
NM_001182.5
p.F320L
c.960C>G
2 papers
NM_001182.5
p.F320L
c.960C>A
1 paper
NM_001182.5
p.A321T
c.961G>A
9 papers
NM_001182.5
p.A318P
c.952G>C
1 paper
NM_001182.5
p.A318T
c.952G>A
13 papers
NM_001182.5
p.A322V
c.965C>T
1 paper
NM_001182.5
p.A322G
c.965C>G
1 paper
NM_001182.5
p.A322D
c.965C>A
7 papers
NM_001182.5
p.S317L
c.950C>T
1 paper
NM_001182.5
p.P316del1
c.946_948delTGG
1 paper
NM_001182.5
p.P316delFs
c.947delG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."