Varaico: Literature-Extracted Genetic Variants

Gene:UPB1
Variant:p.E24K

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.E24K
c.70G>A
Surrounding Variants
1 paper
NM_016327.3
p.Q23K
c.67C>A
1 paper
NM_016327.3
p.L22*
c.65T>A
1 paper
NM_016327.3
p.D21H
c.61G>C
1 paper
NM_016327.3
p.P20S
c.58C>T
1 paper
NM_016327.3
p.V28I
c.82G>A
1 paper
NM_016327.3
p.Y30C
c.89A>G
2 papers
NM_016327.3
p.G31_R35delFs
c.92_104del13
11 papers
NM_016327.3
p.G31S
c.91G>A
3 papers
NM_016327.3
p.G31G
c.93C>T
1 paper
NM_016327.3
p.L13F
c.39G>C
5 papers
NM_016327.3
p.L13S
c.38T>C
1 paper
NM_016327.3
p.E11E
c.33A>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."