Varaico: Literature-Extracted Genetic Variants

Gene:UCK2
Variant:p.Q80H

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.Q80H
c.240G>C
Surrounding Variants
1 paper
NM_012474.5
p.F81L
c.241T>C
1 paper
NM_012474.5
p.F81L
c.243C>A
1 paper
NM_012474.5
p.F81L
c.243C>G
1 paper
NM_012474.5
p.P86L
c.257C>T
1 paper
NM_012474.5
p.A74T
c.220G>A
1 paper
NM_012474.5
p.Q72Q
c.216G>A
1 paper
NM_012474.5
p.T69I
c.206C>T
1 paper
NM_012474.5
p.V67V
c.201C>A
1 paper
NM_012474.5
p.V67V
c.201C>T
1 paper
NM_012474.5
p.R66C
c.196C>T
1 paper
NM_012474.5
p.Q55R
c.164A>G
1 paper
NM_012474.5
p.D50D
c.150C>T
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