Varaico: Literature-Extracted Genetic Variants

Gene:CMPK1
Variant:p.P96S

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
3 papers
NM_016308.3
p.P96S
c.286C>T
Surrounding Variants
1 paper
NM_016308.3
p.V97delFs
c.291delT
1 paper
NM_016308.3
p.E98Q
c.292G>C
1 paper
NM_016308.3
p.E98D
c.294G>C
1 paper
NM_016308.3
p.E98D
c.294G>T
1 paper
NM_016308.3
p.G92R
c.274G>C
1 paper
NM_016308.3
p.E91E
c.273A>G
1 paper
NM_016308.3
p.T100I
c.299C>T
1 paper
NM_016308.3
p.I101_S102insFs
c.303_304insT
1 paper
NM_016308.3
p.L103S
c.308T>C
1 paper
NM_016308.3
p.Y88H
c.262T>C
1 paper
NM_016308.3
p.Y88_I89del1
c.263_265delACA
1 paper
NM_016308.3
p.E83D
c.249A>T
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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."