Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.N449K

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
3 papers
NM_001182.5
p.N449K
c.1347T>A
Surrounding Variants
1 paper
NM_001182.5
p.N449_E450ins1
c.1347_1348insAAC
3 papers
NM_001182.5
p.N449K
c.1347T>G
4 papers
NM_001182.5
p.F445_N448del4
c.1333_1343del12
4 papers
NM_001182.5
p.N448K
c.1344T>G
5 papers
NM_001182.5
p.N448K
c.1344T>A
1 paper
NM_001182.5
p.K452N
c.1356A>T
1 paper
NM_001182.5
p.K452N
c.1356A>C
1 paper
NM_001182.5
p.Q453fs
c.1357_1358fs
4 papers
NM_001182.5
p.Q453R
c.1358A>G
NM_001201377.2
p.Q425R
c.1274A>G
2 papers
NM_001182.5
p.F445Fs
c.1335delinsAAAFs
2 papers
NM_001202404.2
p.G390R
c.1168G>C
NM_001182.5
p.G454R
c.1360G>C
2 papers
NM_001202404.2
p.G390R
c.1168G>A
NM_001182.5
p.G454R
c.1360G>A
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