Varaico: Literature-Extracted Genetic Variants

Gene:UPB1
Variant:p.L9P

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.L9P
c.26T>C
Surrounding Variants
1 paper
NM_016327.3
p.E10*
c.28G>T
1 paper
NM_016327.3
p.E11E
c.33A>G
1 paper
NM_016327.3
p.W6*
c.17G>A
1 paper
NM_016327.3
p.E5E
c.15G>A
5 papers
NM_016327.3
p.L13S
c.38T>C
1 paper
NM_016327.3
p.L13F
c.39G>C
1 paper
NM_016327.3
p.G3G
c.9C>T
1 paper
NM_016327.3
p.M1insFs
c.2dupT
1 paper
NM_016327.3
p.M1V
c.1A>G
1 paper
NM_016327.3
p.P20S
c.58C>T
1 paper
NM_016327.3
p.D21H
c.61G>C
1 paper
NM_016327.3
p.L22*
c.65T>A
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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."