Varaico: Literature-Extracted Genetic Variants

Gene:UPP1

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
1–12 of 81 variants
1 paper
NM_003364.4
p.T4M
c.11C>T
1 paper
NM_003364.4
p.A6T
c.16G>A
1 paper
NM_003364.4
p.K10K
c.30A>G
1 paper
NM_003364.4
p.L21F
c.61C>T
1 paper
NM_003364.4
p.A27V
c.80C>T
1 paper
NM_003364.4
p.K30E
c.88A>G
1 paper
NM_003364.4
p.K30R
c.89A>G
1 paper
NM_003364.4
p.E31G
c.92A>G
1 paper
NM_003364.4
p.F37F
c.111C>T
1 paper
NM_003364.4
p.T40T
c.120C>A
1 paper
NM_003364.4
p.P47S
c.139C>T
1 paper
NM_003364.4
p.K54E
c.160A>G
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