Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.Y516C

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
12 papers
NM_001182.5
p.Y516C
c.1547A>G
Surrounding Variants
1 paper
NM_001182.5
p.Y516*
c.1548C>A
3 papers
NM_001182.5
p.R518G
c.1552A>G
7 papers
NM_001182.5
p.R518T
c.1553G>C
1 paper
NM_001182.5
p.K514E
c.1540A>G
1 paper
NM_001182.5
p.R519fs
c.1555_1556fs
1 paper
NM_001182.5
p.Q515_R519insFs
c.1543_1555dup13
8 papers
NM_001182.5
p.R519K
c.1556G>A
3 papers
NM_001182.5
p.S520P
c.1558T>C
3 papers
NM_001182.5
p.S520F
c.1559C>T
1 paper
NM_001182.5
p.T521P
c.1561A>C
6 papers
NM_001182.5
p.D511N
c.1531G>A
3 papers
NM_001201377.2
p.C494Splc
c.1481+1G>T
NM_001182.5
p.C522Splc
c.1565+1G>T
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