Varaico: Literature-Extracted Genetic Variants

Gene:CMPK1
Variant:p.L27F

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.L27F
c.79C>T
Surrounding Variants
1 paper
NM_016308.3
p.L26_L27insFs
c.78_79insCA
1 paper
NM_016308.3
p.P24S
c.70C>T
1 paper
NM_016308.3
p.P30P
c.90A>G
1 paper
NM_016308.3
p.R23del1
c.67_68delCGG
1 paper
NM_016308.3
p.L32I
c.94C>A
1 paper
NM_016308.3
p.M33K
c.98T>A
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.V37L
c.109G>C
1 paper
NM_016308.3
p.F17insFs
c.50dupT
1 paper
NM_016308.3
p.V37G
c.110T>G
1 paper
NM_016308.3
p.P44delFs
c.132delC
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