Varaico: Literature-Extracted Genetic Variants

Gene:CCNO
Variant:p.K198insFs

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.K198insFs
c.592_593insC
Surrounding Variants
1 paper
NM_021147.5
p.K198fs
c.592_593fs
1 paper
NM_021147.5
p.R196S
c.586C>A
1 paper
NM_021147.5
p.E191K
c.571G>A
1 paper
NM_021147.5
p.C205fs
c.613_614fs
1 paper
NM_021147.5
p.C205delFs
c.615delG
1 paper
NM_021147.5
p.R210delFs
c.630delC
8 papers
NM_021147.5
p.L213P
c.638T>C
1 paper
NM_021147.5
p.I219V
c.655A>G
1 paper
NM_021147.5
p.I219L
c.655A>C
1 paper
NM_021147.5
p.L224fs
c.670_671fs
1 paper
NM_021147.5
p.L228P
c.683T>C
1 paper
NM_021147.5
p.G229S
c.685G>A
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