Varaico: Literature-Extracted Genetic Variants

Gene:UPB1
Variant:p.D309N

UPB1

120 papers

RefSeq Summary

This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are de...

Pfam Domains

CN_hydrolaseaa 73–352UCSCCarbon-nitrogen hydrolase

Gene Aliases

HGNC Name

beta-ureidopropionase 1

HGNC Alias Symbol

BUP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016327.3
p.D309N
c.925G>A
Surrounding Variants
1 paper
NM_016327.3
p.G311V
c.932G>T
22 papers
NM_016327.3
p.A306Splc
c.917-1G>A
1 paper
NM_016327.3
p.Y314H
c.940T>C
1 paper
NM_016327.3
p.G315insFs
c.943_944insC
1 paper
NM_016327.3
p.V319V
c.957G>A
1 paper
NM_016327.3
p.D323N
c.967G>A
1 paper
NM_016327.3
p.S325insFs
c.974dupG
3 papers
NM_016327.3
p.R326W
c.976C>T
26 papers
NM_016327.3
p.R326Q
c.977G>A
1 paper
NM_016327.3
p.R334R
c.1000C>A
1 paper
NM_016327.3
p.R334W
c.1000C>T
1 paper
NM_016327.3
p.D335Y
c.1003G>T
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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."