Varaico: Literature-Extracted Genetic Variants

Gene:CMPK1
Variant:p.C5Y

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.C5Y
c.14G>A
Surrounding Variants
1 paper
NM_016308.3
p.G8delFs
c.23delG
17 papers
NM_016308.3
p.G8R
c.22G>A
15 papers
NM_016308.3
p.G8R
c.22G>C
1 paper
NM_016308.3
p.G8G
c.24G>A
1 paper
NM_016308.3
p.M1I
c.3G>A
1 paper
NM_016308.3
p.M1_L2insFs
c.3_4insT
1 paper
NM_016308.3
p.F17insFs
c.50dupT
1 paper
NM_016308.3
p.L18Fs
c.52delinsCTFs
1 paper
NM_016308.3
p.L18fs
c.52_53fs
1 paper
NM_016308.3
p.R23del1
c.67_68delCGG
1 paper
NM_016308.3
p.P24S
c.70C>T
1 paper
NM_016308.3
p.L26_L27insFs
c.78_79insCA
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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."