Varaico: Literature-Extracted Genetic Variants

Gene:DDO

DDO

39 papers

RefSeq Summary

The protein encoded by this gene is a peroxisomal flavoprotein that catalyzes the oxidative deamination of D-aspartate and N-methyl D-aspartate. Flavin adenine dinucleotide or 6-hydroxyflavin adenine ...

Pfam Domains

DAOaa 5–324UCSCFAD dependent oxidoreductase

Gene Aliases

HGNC Name

D-aspartate oxidase

HGNC Alias Symbols

DASOX; DASPO

Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
3 papers
NM_001372108.2
p.F136L
c.406T>C
3 papers
NM_001372108.2
p.F136L
c.408T>G
3 papers
NM_001372108.2
p.F136L
c.408T>A
2 papers
NM_001372108.2
p.C141Y
c.422G>A
2 papers
NM_001372108.2
p.R216L
c.647G>T
2 papers
NM_001372108.2
p.R216Q
c.647G>A
1 paper
NM_001372108.2
p.V8A
c.23T>C
1 paper
NM_001372108.2
p.D41V
c.122A>T
1 paper
NM_001372108.2
p.A47T
c.139G>A
1 paper
NM_001372108.2
p.A48G
c.143C>G
1 paper
NM_001372108.2
p.H90L
c.269A>T
1 paper
NM_001372108.2
p.W95C
c.285G>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."