Varaico: Literature-Extracted Genetic Variants

Gene:UPB1
Variant:p.I166V

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
6 papers
NM_016327.3
p.I166V
c.496A>G
Surrounding Variants
1 paper
NM_016327.3
p.R169Q
c.506G>A
1 paper
NM_016327.3
p.D170N
c.508G>A
1 paper
NM_016327.3
p.E172K
c.514G>A
1 paper
NM_016327.3
p.A155V
c.464C>T
1 paper
NM_016327.3
p.A155_K156del2
c.463_467del6
1 paper
NM_016327.3
p.N179_T180delFs
c.537_538delTA
1 paper
NM_016327.3
p.A181T
c.541G>A
1 paper
NM_016327.3
p.G188R
c.562G>A
1 paper
NM_016327.3
p.G188R
c.562G>C
2 papers
NM_016327.3
p.A189V
c.566C>T
1 paper
NM_016327.3
p.K193E
c.577A>G
1 paper
NM_016327.3
p.K193K
c.579G>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."