Varaico: Literature-Extracted Genetic Variants

Gene:CMPK1
Variant:p.G125R

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.G125R
c.373G>A
Surrounding Variants
1 paper
NM_016308.3
p.G125V
c.374G>T
1 paper
NM_016308.3
p.D124Y
c.370G>T
1 paper
NM_016308.3
p.F121F
c.363C>T
2 papers
NM_016308.3
p.R128K
c.383G>A
1 paper
NM_016308.3
p.N129K
c.387T>G
1 paper
NM_016308.3
p.D131G
c.392A>G
1 paper
NM_016308.3
p.K118N
c.354G>C
1 paper
NM_016308.3
p.K118N
c.354G>T
1 paper
NM_016308.3
p.N132S
c.395A>G
1 paper
NM_016308.3
p.Q117*
c.349C>T
9 papers
NM_016308.3
p.N115S
c.344A>G
1 paper
NM_016308.3
p.T139delFs
c.415delA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."