Varaico: Literature-Extracted Genetic Variants

Gene:UCKL1
Variant:p.R308Splc

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
Selected Variant
1 paper
NM_017859.4
p.R308Splc
c.923+776T>G
Surrounding Variants
1 paper
NM_017859.4
p.E302*
c.904G>T
1 paper
NM_017859.4
p.S325S
c.975C>T
1 paper
NM_017859.4
p.G251A
c.752G>C
1 paper
NM_017859.4
p.I351I
c.1053C>T
1 paper
NM_017859.4
p.H364R
c.1091A>G
1 paper
NM_017859.4
p.P370S
c.1108C>T
2 papers
NM_017859.4
p.P370L
c.1109C>T
1 paper
NM_017859.4
p.A385V
c.1154C>T
1 paper
NM_017859.4
p.S398F
c.1193C>T
1 paper
NM_017859.4
p.G403D
c.1208G>A
1 paper
NM_017859.4
p.S483L
c.1448C>T
1 paper
NM_017859.4
p.V508L
c.1522G>T
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