Varaico: Literature-Extracted Genetic Variants

Gene:UCK2
Variant:p.Q13H

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.Q13H
c.39G>C
Surrounding Variants
1 paper
NM_012474.5
p.G17A
c.50G>C
1 paper
NM_012474.5
p.L9insFs
c.27dupG
1 paper
NM_012474.5
p.E19E
c.57G>A
1 paper
NM_012474.5
p.Q7*
c.19C>T
1 paper
NM_012474.5
p.M1K
c.2T>A
1 paper
NM_012474.5
p.G27G
c.81G>A
1 paper
NM_012474.5
p.A30G
c.89C>G
1 paper
NM_012474.5
p.S31R
c.91A>C
1 paper
NM_012474.5
p.S31R
c.93C>A
1 paper
NM_012474.5
p.S31R
c.93C>G
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