Varaico: Literature-Extracted Genetic Variants

Gene:CCNO
Variant:p.N47K

CCNO

146 papers

RefSeq Summary

This gene encodes a member of the cyclin protein family, and the encoded protein is involved in regulation of the cell cycle. Disruption of this gene is associated with primary ciliary dyskinesia-19. ...

Pfam Domains

Cyclin_Naa 104–229UCSCCyclin, N-terminal domain
Cyclin_Caa 231–344UCSCCyclin, C-terminal domain

Gene Aliases

HGNC Name

cyclin O

HGNC Previous Symbol

CCNU

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021147.5
p.N47K
c.141C>A
Surrounding Variants
1 paper
NM_021147.5
p.C49W
c.147C>G
2 papers
NM_021147.5
p.P45H
c.134C>A
1 paper
NM_021147.5
p.H44D
c.130C>G
1 paper
NM_021147.5
p.G53E
c.158G>A
5 papers
NM_021147.5
p.S55delFs
c.165delG
4 papers
NM_021147.5
p.G56fs
c.166_167fs
2 papers
NM_021147.5
p.S63P
c.187T>C
1 paper
NM_021147.5
p.S65fs
c.193_194fs
1 paper
NM_021147.5
p.S65G
c.193A>G
1 paper
NM_021147.5
p.P64insFs
c.192dupC
1 paper
NM_021147.5
p.G67R
c.199G>C
1 paper
NM_021147.5
p.G67S
c.199G>A
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