Varaico: Literature-Extracted Genetic Variants

Gene:UPB1
Variant:p.A85E

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
13 papers
NM_016327.3
p.A85E
c.254C>A
Surrounding Variants
1 paper
NM_016327.3
p.P84S
c.250C>T
1 paper
NM_016327.3
p.L83H
c.248T>A
1 paper
NM_016327.3
p.P82L
c.245C>T
1 paper
NM_016327.3
p.A90T
c.268G>A
1 paper
NM_016327.3
p.N79K
c.237C>A
1 paper
NM_016327.3
p.Q92Q
c.276G>A
1 paper
NM_016327.3
p.G75G
c.225G>T
1 paper
NM_016327.3
p.V74M
c.220G>A
1 paper
NM_016327.3
p.V72V
c.216G>A
4 papers
NM_016327.3
p.R70P
c.209G>C
1 paper
NM_016327.3
p.R68Q
c.203G>A
1 paper
NM_016327.3
p.F59C
c.176T>G
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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."