Varaico: Literature-Extracted Genetic Variants

Gene:CMPK1
Variant:p.V37L

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.V37L
c.109G>C
Surrounding Variants
1 paper
NM_016308.3
p.V37G
c.110T>G
1 paper
NM_016308.3
p.M33K
c.98T>A
1 paper
NM_016308.3
p.L32I
c.94C>A
1 paper
NM_016308.3
p.P30P
c.90A>G
1 paper
NM_016308.3
p.P44delFs
c.132delC
1 paper
NM_016308.3
p.G45fs
c.133_134fs
1 paper
NM_016308.3
p.L27F
c.79C>T
1 paper
NM_016308.3
p.L26_L27insFs
c.78_79insCA
1 paper
NM_016308.3
p.K48fs
c.142_143fs
1 paper
NM_016308.3
p.K48delFs
c.143_144delAG
2 papers
NM_016308.3
p.K48N
c.144G>T
1 paper
NM_016308.3
p.T50fs
c.148_149fs
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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."