Varaico: Literature-Extracted Genetic Variants

Gene:UCK2
Variant:p.G104R

UCK2

41 papers

RefSeq Summary

This gene encodes a pyrimidine ribonucleoside kinase. The encoded protein (EC 2.7.1.48) catalyzes phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP...

Pfam Domains

PRKaa 7–196UCSCPhosphoribulokinase / Uridine kinase family
PRKaa 22–217UCSCPhosphoribulokinase / Uridine kinase family

Gene Aliases

HGNC Name

uridine-cytidine kinase 2

HGNC Previous Symbol

UMPK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012474.5
p.G104R
c.310G>A
Surrounding Variants
1 paper
NM_012474.5
p.K105E
c.313A>G
1 paper
NM_012474.5
p.V107G
c.320T>G
1 paper
NM_012474.5
p.E100*
c.298G>T
1 paper
NM_012474.5
p.Q108R
c.323A>G
1 paper
NM_012474.5
p.K99R
c.296A>G
1 paper
NM_012474.5
p.H117D
c.349C>G
2 papers
NM_012474.5
p.H117Y
c.349C>T
1 paper
NM_012474.5
p.D90N
c.268G>A
1 paper
NM_012474.5
p.A88G
c.263C>G
1 paper
NM_012474.5
p.P86L
c.257C>T
1 paper
NM_012474.5
p.F81L
c.243C>A
1 paper
NM_012474.5
p.F81L
c.243C>G
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