Varaico: Literature-Extracted Genetic Variants

Gene:UCK2
Variant:p.G136G

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
2 papers
NM_012474.5
p.G136G
c.408G>A
Surrounding Variants
1 paper
NM_012474.5
p.A139A
c.417C>T
1 paper
NM_012474.5
p.V132A
c.395T>C
1 paper
NM_012474.5
p.V131V
c.393G>A
1 paper
NM_012474.5
p.P128P
c.384C>G
1 paper
NM_012474.5
p.Y127C
c.380A>G
1 paper
NM_012474.5
p.V124V
c.372T>G
1 paper
NM_012474.5
p.F154F
c.462T>C
1 paper
NM_012474.5
p.D156N
c.466G>A
1 paper
NM_012474.5
p.D156H
c.466G>C
1 paper
NM_012474.5
p.D156E
c.468T>G
1 paper
NM_012474.5
p.R162W
c.484C>T
1 paper
NM_012474.5
p.R166G
c.496A>G
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