Varaico: Literature-Extracted Genetic Variants

Gene:CMPK1
Variant:p.F152delFs

CMPK1

114 papers

RefSeq Summary

This gene encodes one of the enzymes required for cellular nucleic acid biosynthesis. This enzyme catalyzes the transfer of a phosphate group from ATP to CMP, UMP, or dCMP, to form the corresponding d...

Pfam Domains

ADKaa 56–154UCSCAdenylate kinase

Gene Aliases

HGNC Name

cytidine/uridine monophosphate kinase 1

HGNC Alias Symbol

UMP-CMPK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016308.3
p.F152delFs
c.456delT
Surrounding Variants
1 paper
NM_016308.3
p.F152fs
c.454_455fs
1 paper
NM_016308.3
p.D145D
c.435T>C
1 paper
NM_016308.3
p.K143T
c.428A>C
1 paper
NM_016308.3
p.K143Q
c.427A>C
1 paper
NM_016308.3
p.D141H
c.421G>C
1 paper
NM_016308.3
p.T139delFs
c.415delA
1 paper
NM_016308.3
p.N132S
c.395A>G
1 paper
NM_016308.3
p.D131G
c.392A>G
1 paper
NM_016308.3
p.N129K
c.387T>G
2 papers
NM_016308.3
p.R128K
c.383G>A
1 paper
NM_016308.3
p.G125V
c.374G>T
1 paper
NM_016308.3
p.G125R
c.373G>A
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