Varaico: Literature-Extracted Genetic Variants

Gene:ALDH9A1
Variant:p.E492_N493delFs

ALDH9A1

87 papers

RefSeq Summary

This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenat...

Gene Aliases

HGNC Name

aldehyde dehydrogenase 9 family member A1

HGNC Previous Symbols

ALDH7; ALDH4; ALDH9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000696.4
p.E492_N493delFs
c.1476_1477delTC
Surrounding Variants
1 paper
NM_000696.4
p.N493fs
c.1477_1478fs
2 papers
NM_000696.4
p.I498I
c.1494C>T
1 paper
NM_000696.4
p.L504delFs
c.1512delC
1 paper
NM_000696.4
p.G488Splc
c.1462+199A>C
1 paper
NM_000696.4
p.G488Splc
c.1462+27A>G
1 paper
NM_000696.4
p.G488Splc
c.1462+3G>A
1 paper
NM_000696.4
p.G483A
c.1448G>C
3 papers
NM_000696.4
p.Y472C
c.1415A>G
1 paper
NM_000696.4
p.Q463R
c.1388A>G
2 papers
NM_000696.4
p.E461K
c.1381G>A
1 paper
NM_000696.4
p.R450Splc
c.1350-58G>C
1 paper
NM_000696.4
p.R450Splc
c.1349+36G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."