Varaico: Literature-Extracted Genetic Variants

Gene:UCKL1

UCKL1

26 papers

RefSeq Summary

The protein encoded by this gene is a uridine kinase. Uridine kinases catalyze the phosphorylation of uridine to uridine monophosphate. This protein has been shown to bind to Epstein-Barr nuclear anti...

Pfam Domains

PRKaa 100–288UCSCPhosphoribulokinase / Uridine kinase family
UPRTaseaa 326–532UCSCUracil phosphoribosyltransferase

Gene Aliases

HGNC Name

uridine-cytidine kinase 1 like 1

HGNC Previous Symbol

URKL1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
2 papers
NM_017859.4
p.P370L
c.1109C>T
1 paper
NM_017859.4
p.M1fs
c.1_2fs
1 paper
NM_017859.4
p.A2D
c.5C>A
1 paper
NM_017859.4
p.R55H
c.164G>A
1 paper
NM_017859.4
p.P70L
c.209C>T
1 paper
NM_017859.4
p.P85L
c.254C>T
1 paper
NM_017859.4
p.T93M
c.278C>T
1 paper
NM_017859.4
p.T93T
c.279G>A
1 paper
NM_017859.4
p.G106R
c.316G>C
1 paper
NM_017859.4
p.K111N
c.333G>T
1 paper
NM_017859.4
p.K111N
c.333G>C
1 paper
NM_017859.4
p.P125S
c.373C>T
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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."