Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.Y354C

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
18 papers
NM_001182.5
p.Y354C
c.1061A>G
Surrounding Variants
1 paper
NM_001182.5
p.Y354S
c.1061A>C
1 paper
NM_001182.5
p.A355T
c.1063G>A
1 paper
NM_001182.5
p.A353Fs
c.1059delinsTTFs
1 paper
NM_001182.5
p.K352delFs
c.1054_1055delTT
1 paper
NM_001182.5
p.Q356E
c.1066C>G
4 papers
NM_001201377.2
p.R330*
c.988C>T
NM_001182.5
p.R358*
c.1072C>T
1 paper
NM_001182.5
p.L350F
c.1048C>T
1 paper
NM_001182.5
p.G360R
c.1078G>C
1 paper
NM_001182.5
p.N348D
c.1042A>G
1 paper
NM_001182.5
p.P362S
c.1084C>T
3 papers
NM_001201377.2
p.V318L
c.952G>C
3 papers
NM_001182.5
p.W363*
c.1088G>A
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