Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.L471insFs

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.L471insFs
c.1412_1413insG
Surrounding Variants
3 papers
NM_001182.5
p.L471insFs
c.1411_1412insG
1 paper
NM_001182.5
p.G472R
c.1414G>A
3 papers
NM_001182.5
p.W470G
c.1408T>G
2 papers
NM_001182.5
p.G472Splc
c.1415+1G>T
3 papers
NM_001182.5
p.R469H
c.1406G>A
4 papers
NM_001182.5
p.R469C
c.1405C>T
1 paper
NM_001182.5
p.I467T
c.1400T>C
1 paper
NM_001182.5
p.K452_R466del15
c.1354_1397del45
1 paper
NM_001182.5
p.G472Splc
c.1415+10T>C
1 paper
NM_001182.5
p.R466T
c.1397G>C
1 paper
NM_001182.5
p.G465R
c.1393G>C
1 paper
NM_001182.5
p.D463fs
c.1387_1388fs
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