Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.D308G

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
4 papers
NM_001182.5
p.D308G
c.923A>G
Surrounding Variants
1 paper
NM_001182.5
p.E307*
c.919G>T
1 paper
NM_001182.5
p.F306I
c.916T>A
1 paper
NM_001182.5
p.A305G
c.914C>G
1 paper
NM_001182.5
p.S312G
c.934A>G
2 papers
NM_001182.5
p.A305Splc
c.914-2A>C
1 paper
NM_001182.5
p.S312R
c.934A>C
1 paper
NM_001182.5
p.S312R
c.936C>G
1 paper
NM_001182.5
p.S312R
c.936C>A
1 paper
NM_001182.5
p.L313fs
c.937_938fs
1 paper
NM_001182.5
p.S312_V314delFs
c.936_940del5
1 paper
NM_001182.5
p.P316fs
c.946_947fs
1 paper
NM_001182.5
p.P316delFs
c.947delG
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