Varaico: Literature-Extracted Genetic Variants

Gene:CMPK1
Variant:p.E57_K58Splc

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.E57_K58Splc
c.171+1G>A
Surrounding Variants
1 paper
NM_016308.3
p.E57D
c.171G>C
1 paper
NM_016308.3
p.E57insFs
c.171dupG
1 paper
NM_016308.3
p.I55fs
c.163_164fs
1 paper
NM_016308.3
p.I55delFs
c.164delT
1 paper
NM_016308.3
p.R54S
c.160C>A
1 paper
NM_016308.3
p.R54delFs
c.161delG
1 paper
NM_016308.3
p.A53V
c.158C>T
1 paper
NM_016308.3
p.A53T
c.157G>A
1 paper
NM_016308.3
p.T50fs
c.148_149fs
2 papers
NM_016308.3
p.K48N
c.144G>T
1 paper
NM_016308.3
p.K48fs
c.142_143fs
1 paper
NM_016308.3
p.K48delFs
c.143_144delAG
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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."