Varaico: Literature-Extracted Genetic Variants

Gene:UPB1
Variant:p.F44L

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.F44L
c.130T>C
Surrounding Variants
1 paper
NM_016327.3
p.A43A
c.129T>C
1 paper
NM_016327.3
p.F44L
c.132C>A
1 paper
NM_016327.3
p.F44L
c.132C>G
1 paper
NM_016327.3
p.A43T
c.127G>A
1 paper
NM_016327.3
p.A47S
c.139G>T
1 paper
NM_016327.3
p.P40P
c.120C>A
1 paper
NM_016327.3
p.P40L
c.119C>T
2 papers
NM_016327.3
p.S48P
c.142T>C
1 paper
NM_016327.3
p.S48C
c.143C>G
1 paper
NM_016327.3
p.L39L
c.117G>C
1 paper
NM_016327.3
p.R49G
c.145A>G
1 paper
NM_016327.3
p.F52delFs
c.155_156delTT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."