Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.D463fs

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.D463fs
c.1387_1388fs
Surrounding Variants
1 paper
NM_001182.5
p.G465R
c.1393G>C
1 paper
NM_001182.5
p.R466T
c.1397G>C
1 paper
NM_001182.5
p.I459T
c.1376T>C
6 papers
NM_001182.5
p.I459F
c.1375A>T
NM_001201377.2
p.I431F
c.1291A>T
2 papers
NM_001182.5
p.I459V
c.1375A>G
1 paper
NM_001182.5
p.I467T
c.1400T>C
1 paper
NM_001182.5
p.K452_R466del15
c.1354_1397del45
6 papers
NM_001182.5
p.S458N
c.1373G>A
NM_001201377.2
p.S430N
c.1289G>A
2 papers
NM_001182.5
p.S457I
c.1370G>T
4 papers
NM_001182.5
p.R469C
c.1405C>T
3 papers
NM_001182.5
p.R469H
c.1406G>A
2 papers
NM_001182.5
p.S456L
c.1367C>T
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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."