Varaico: Literature-Extracted Genetic Variants

Gene:UCK1
Variant:p.Q56*

UCK1

14 papers

RefSeq Summary

This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of de...

Pfam Domains

PRKaa 25–219UCSCPhosphoribulokinase / Uridine kinase family

Gene Aliases

HGNC Name

uridine-cytidine kinase 1

HGNC Alias Symbols

URK1; FLJ12255

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031432.5
p.Q56*
c.166C>T
Surrounding Variants
1 paper
NM_031432.5
p.V52V
c.156G>C
1 paper
NM_031432.5
p.N50N
c.150C>T
1 paper
NM_031432.5
p.M44I
c.132G>A
1 paper
NM_031432.5
p.M44T
c.131T>C
1 paper
NM_031432.5
p.K42N
c.126G>T
1 paper
NM_031432.5
p.T72A
c.214A>G
1 paper
NM_031432.5
p.V39V
c.117G>C
1 paper
NM_031432.5
p.T72T
c.216G>A
1 paper
NM_031432.5
p.V39M
c.115G>A
1 paper
NM_031432.5
p.E74K
c.220G>A
1 paper
NM_031432.5
p.Q75K
c.223C>A
1 paper
NM_031432.5
p.K81R
c.242A>G
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