Varaico: Literature-Extracted Genetic Variants

Gene:UPB1
Variant:p.S264R

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
7 papers
NM_016327.3
p.S264R
c.790A>C
Surrounding Variants
7 papers
NM_016327.3
p.S264R
c.792C>A
7 papers
NM_016327.3
p.S264R
c.792C>G
1 paper
NM_016327.3
p.S264Splc
c.791+5C>G
1 paper
NM_016327.3
p.G261E
c.782G>A
1 paper
NM_016327.3
p.T259A
c.775A>G
1 paper
NM_016327.3
p.P256P
c.768C>T
1 paper
NM_016327.3
p.F254L
c.762C>A
1 paper
NM_016327.3
p.F254L
c.762C>G
1 paper
NM_016327.3
p.F254L
c.760T>C
1 paper
NM_016327.3
p.I252V
c.754A>G
1 paper
NM_016327.3
p.S246S
c.738C>T
1 paper
NM_016327.3
p.W242R
c.724T>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."