Varaico: Literature-Extracted Genetic Variants

Gene:UPP1
Variant:p.G101*

UPP1

46 papers

RefSeq Summary

This gene encodes a uridine phosphorylase, an enzyme that catalyzes the reversible phosphorylation of uridine (or 2'- deoxyuridine) to uracil and ribose-1-phosphate (or deoxyribose-1-phosphate). The e...

Pfam Domains

PNP_UDP_1aa 54–304UCSCPhosphorylase superfamily

Gene Aliases

HGNC Name

uridine phosphorylase 1

HGNC Previous Symbol

UP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003364.4
p.G101*
c.301G>T
Surrounding Variants
1 paper
NM_003364.4
p.Y98C
c.293A>G
1 paper
NM_003364.4
p.Y98H
c.292T>C
1 paper
NM_003364.4
p.M97I
c.291G>A
1 paper
NM_003364.4
p.V106V
c.318C>A
1 paper
NM_003364.4
p.R94H
c.281G>A
1 paper
NM_003364.4
p.A90T
c.268G>A
1 paper
NM_003364.4
p.N87T
c.260A>C
1 paper
NM_003364.4
p.G82A
c.245G>C
1 paper
NM_003364.4
p.A74T
c.220G>A
1 paper
NM_003364.4
p.I69V
c.205A>G
1 paper
NM_003364.4
p.R64W
c.190C>T
1 paper
NM_003364.4
p.S61N
c.182G>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."