Varaico: Literature-Extracted Genetic Variants

Gene:CCNO
Variant:p.Y278*

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.Y278*
c.834C>G
Surrounding Variants
1 paper
NM_021147.5
p.Y278insFs
c.833dupA
1 paper
NM_021147.5
p.Y278*
c.834C>A
1 paper
NM_021147.5
p.P280R
c.839C>G
1 paper
NM_021147.5
p.S281F
c.842C>T
3 papers
NM_021147.5
p.L283P
c.848T>C
2 papers
NM_021147.5
p.S269N
c.806G>A
1 paper
NM_021147.5
p.V265insFs
c.793dupG
1 paper
NM_021147.5
p.D292fs
c.874_875fs
1 paper
NM_021147.5
p.V265fs
c.793_794fs
2 papers
NM_021147.5
p.D292fs
c.874_875fs
1 paper
NM_021147.5
p.R293L
c.878G>T
1 paper
NM_021147.5
p.G264R
c.790G>C
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