Varaico: Literature-Extracted Genetic Variants

Gene:UPB1
Variant:p.T291_E292Splc

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.T291_E292Splc
c.873+1G>A
Surrounding Variants
1 paper
NM_016327.3
p.T291_E292Splc
c.873+2T>A
1 paper
NM_016327.3
p.T291_E292Splc
c.873+9C>T
1 paper
NM_016327.3
p.V289L
c.865G>C
1 paper
NM_016327.3
p.R288*
c.862C>T
1 paper
NM_016327.3
p.I286N
c.857T>A
5 papers
NM_016327.3
p.I286T
c.857T>C
1 paper
NM_016327.3
p.I286_N287delFs
c.856_859del4
1 paper
NM_016327.3
p.I286_N287del2
c.856_860del6
5 papers
NM_016327.3
p.A285T
c.853G>A
3 papers
NM_016327.3
p.C284F
c.851G>T
1 paper
NM_016327.3
p.F282F
c.846C>T
1 paper
NM_016327.3
p.A276A
c.828C>T
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