Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.N301delFs

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.N301delFs
c.901_902delTT
Surrounding Variants
14 papers
NM_001182.5
p.N301I
c.902A>T
NM_001201377.2
p.N273I
c.818A>T
1 paper
NM_001182.5
p.N301S
c.902A>G
1 paper
NM_001182.5
p.N300S
c.899A>G
2 papers
NM_001182.5
p.N300D
c.898A>G
3 papers
NM_001182.5
p.G299R
c.895G>C
3 papers
NM_001182.5
p.G299R
c.895G>A
1 paper
NM_001182.5
p.A305Splc
c.913+5G>A
2 papers
NM_001182.5
p.E296*
c.886G>T
1 paper
NM_001201377.2
p.L266L
c.796C>T
1 paper
NM_001182.5
p.R292_S293insFs
c.876_877dupAA
2 papers
NM_001182.5
p.S293fs
c.877_878fs
3 papers
NM_001182.5
p.G291E
c.872G>A
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