Varaico: Literature-Extracted Genetic Variants

Gene:UPB1
Variant:p.W268R

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.W268R
c.802T>C
Surrounding Variants
1 paper
NM_016327.3
p.W268*
c.803G>A
1 paper
NM_016327.3
p.E265D
c.795G>C
1 paper
NM_016327.3
p.E265D
c.795G>T
5 papers
NM_016327.3
p.E271K
c.811G>A
1 paper
NM_016327.3
p.E265K
c.793G>A
5 papers
NM_016327.3
p.S264R
c.792C>A
1 paper
NM_016327.3
p.E271E
c.813G>A
1 paper
NM_016327.3
p.A276A
c.828C>T
1 paper
NM_016327.3
p.F282F
c.846C>T
3 papers
NM_016327.3
p.C284F
c.851G>T
5 papers
NM_016327.3
p.A285T
c.853G>A
1 paper
NM_016327.3
p.I286_N287delFs
c.856_859del4
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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."