Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.T276P

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.T276P
c.826A>C
Surrounding Variants
1 paper
NM_001182.5
p.G274_S275del2
c.820_824del6
1 paper
NM_001182.5
p.S275R
c.825C>G
1 paper
NM_001182.5
p.S275R
c.825C>A
1 paper
NM_001182.5
p.S275R
c.823A>C
5 papers
NM_001182.5
p.G274E
c.821G>A
2 papers
NM_001182.5
p.V278fs
c.832_833fs
1 paper
NM_001182.5
p.V278delFs
c.832delC
21 papers
NM_001182.5
p.V278V
c.834G>A
NM_001201377.2
p.V250V
c.750G>A
1 paper
NM_001182.5
p.V278delFs
c.833delA
1 paper
NM_001182.5
p.Q281fs
c.841_842fs
4 papers
NM_001182.5
p.Q281*
c.841C>T
1 paper
NM_001182.5
p.L269_L270delFs
c.807_808delGC
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."