Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.F445fs

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
2 papers
NM_001182.5
p.F445fs
c.1333_1334fs
Surrounding Variants
1 paper
NM_001182.5
p.F445I
c.1333T>A
2 papers
NM_001182.5
p.F445Fs
c.1335delinsAAAFs
2 papers
NM_001182.5
p.E443*
c.1327G>T
1 paper
NM_001182.5
p.E442Q
c.1324G>C
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.E441Q
c.1321G>C
4 papers
NM_001182.5
p.F445_N448del4
c.1333_1343del12
1 paper
NM_001182.5
p.N449_E450ins1
c.1347_1348insAAC
3 papers
NM_001182.5
p.N449K
c.1347T>G
3 papers
NM_001182.5
p.N449K
c.1347T>A
2 papers
NM_001182.5
p.K439_N440Splc
c.1318-1G>C
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