Varaico: Literature-Extracted Genetic Variants

Gene:CMPK1
Variant:p.R74insFs

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.R74insFs
c.221_222insA
Surrounding Variants
1 paper
NM_016308.3
p.E73K
c.217G>A
1 paper
NM_016308.3
p.N76_Q80delFs
c.228_238del11
1 paper
NM_016308.3
p.D72delFs
c.215delA
1 paper
NM_016308.3
p.P77T
c.229C>A
1 paper
NM_016308.3
p.D78_Y81del0
c.234_242del9
5 papers
NM_016308.3
p.Q80H
c.240G>C
7 papers
NM_016308.3
p.Q80H
c.240G>T
1 paper
NM_016308.3
p.Y81C
c.242A>G
1 paper
NM_016308.3
p.G82V
c.245G>T
1 paper
NM_016308.3
p.E83D
c.249A>T
1 paper
NM_016308.3
p.T62T
c.186A>G
1 paper
NM_016308.3
p.Y88H
c.262T>C
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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."