Varaico: Literature-Extracted Genetic Variants

Gene:UPB1
Variant:p.L337P

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
2 papers
NM_016327.3
p.L337P
c.1010T>C
Surrounding Variants
1 paper
NM_016327.3
p.D335Y
c.1003G>T
1 paper
NM_016327.3
p.A340D
c.1019C>A
1 paper
NM_016327.3
p.R334R
c.1000C>A
1 paper
NM_016327.3
p.R334W
c.1000C>T
1 paper
NM_016327.3
p.L344_N345delFs
c.1031_1034del4
1 paper
NM_016327.3
p.N345I
c.1034A>T
26 papers
NM_016327.3
p.R326Q
c.977G>A
3 papers
NM_016327.3
p.R326W
c.976C>T
1 paper
NM_016327.3
p.S325insFs
c.974dupG
1 paper
NM_016327.3
p.D323N
c.967G>A
1 paper
NM_016327.3
p.V353A
c.1058T>C
1 paper
NM_016327.3
p.W354*
c.1061G>A
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