Varaico: Literature-Extracted Genetic Variants

Gene:CMPK1
Variant:p.E199A

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.E199A
c.596A>C
Surrounding Variants
1 paper
NM_016308.3
p.E200_M201delFs
c.600_601delAA
1 paper
NM_016308.3
p.D208H
c.622G>C
1 paper
NM_016308.3
p.A209D
c.626C>A
1 paper
NM_016308.3
p.R183Splc
c.549-91C>T
1 paper
NM_016308.3
p.K182fs
c.544_545fs
1 paper
NM_016308.3
p.E181G
c.542A>G
1 paper
NM_016308.3
p.K182delFs
c.545delA
1 paper
NM_016308.3
p.D174N
c.520G>A
2 papers
NM_016308.3
p.D174Y
c.520G>T
1 paper
NM_016308.3
p.R172G
c.514A>G
1 paper
NM_016308.3
p.E161E
c.483A>G
1 paper
NM_016308.3
p.E215_V216Splc
c.646-20A>G
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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."