Varaico: Literature-Extracted Genetic Variants

Gene:CCNO
Variant:p.L261delFs

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
2 papers
NM_021147.5
p.L261delFs
c.781delG
Surrounding Variants
2 papers
NM_021147.5
p.L261fs
c.781_782fs
1 paper
NM_021147.5
p.A262_R263ins4
c.784_788ins12
4 papers
NM_021147.5
p.A262_R263ins5
c.784_788ins15
3 papers
NM_021147.5
p.A262_R263ins10
c.784_788ins30
1 paper
NM_021147.5
p.A260A
c.780C>T
1 paper
NM_021147.5
p.R263P
c.788G>C
1 paper
NM_021147.5
p.G264R
c.790G>C
1 paper
NM_021147.5
p.G264R
c.790G>A
1 paper
NM_021147.5
p.A258V
c.773C>T
1 paper
NM_021147.5
p.A258E
c.773C>A
1 paper
NM_021147.5
p.V265fs
c.793_794fs
1 paper
NM_021147.5
p.V265insFs
c.793dupG
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