Varaico: Literature-Extracted Genetic Variants

Gene:ALDH3A1
Variant:p.R314C

ALDH3A1

74 papers

RefSeq Summary

Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic...

Pfam Domains

Aldedhaa 1–428UCSCAldehyde dehydrogenase family

Gene Aliases

HGNC Name

aldehyde dehydrogenase 3 family member A1

HGNC Previous Symbol

ALDH3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000691.5
p.R314C
c.940C>T
Surrounding Variants
1 paper
NM_000691.5
p.G309E
c.926G>A
1 paper
NM_000691.5
p.G300D
c.899G>A
1 paper
NM_000691.5
p.G283A
c.848G>C
1 paper
NM_000691.5
p.Y282C
c.845A>G
1 paper
NM_000691.5
p.D281E
c.843C>G
2 papers
NM_000691.5
p.E270A
c.809A>C
1 paper
NM_000691.5
p.K269_E270Splc
c.808-20C>T
1 paper
NM_000691.5
p.A317Splc
c.950-41G>T
1 paper
NM_000691.5
p.A317Splc
c.950-29G>A
1 paper
NM_000691.5
p.T319P
c.955A>C
15 papers
NM_000691.5
p.P329A
c.985C>G
2 papers
NM_000691.5
p.E333Q
c.997G>C
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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."