Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.G258Splc

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.G258Splc
c.774-18G>A
Surrounding Variants
1 paper
NM_001182.5
p.T259fs
c.775_776fs
1 paper
NM_001182.5
p.M261V
c.781A>G
1 paper
NM_001182.5
p.K263R
c.788A>G
8 papers
NM_001182.5
p.R266*
c.796C>T
1 paper
NM_001182.5
p.L269_L270delFs
c.807_808delGC
5 papers
NM_001182.5
p.G274E
c.821G>A
1 paper
NM_001182.5
p.S275R
c.823A>C
1 paper
NM_001182.5
p.S275R
c.825C>G
1 paper
NM_001182.5
p.S275R
c.825C>A
3 papers
NM_001182.5
p.T276P
c.826A>C
1 paper
NM_001182.5
p.G274_S275del2
c.820_824del6
2 papers
NM_001182.5
p.V278fs
c.832_833fs
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."