Varaico: Literature-Extracted Genetic Variants

Gene:DDO
Variant:p.R216L

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
Selected Variant
2 papers
NM_001372108.2
p.R216L
c.647G>T
Surrounding Variants
2 papers
NM_001372108.2
p.R216Q
c.647G>A
1 paper
NM_001372108.2
p.Y223F
c.668A>T
1 paper
NM_001372108.2
p.Y223S
c.668A>C
1 paper
NM_001372108.2
p.P226S
c.676C>T
1 paper
NM_001372108.2
p.V275G
c.824T>G
1 paper
NM_001372108.2
p.R153Splc
c.459-5C>T
1 paper
NM_001372108.2
p.L286Q
c.857T>A
1 paper
NM_001372108.2
p.Q296R
c.887A>G
1 paper
NM_001372108.2
p.V300I
c.898G>A
1 paper
NM_001372108.2
p.S308N
c.923G>A
1 paper
NM_001372108.2
p.G309R
c.925G>C
1 paper
NM_001372108.2
p.G309R
c.925G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."