Varaico: Literature-Extracted Genetic Variants

Gene:CCNO
Variant:p.L83insFs

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
3 papers
NM_021147.5
p.L83insFs
c.248_249ins5
Surrounding Variants
2 papers
NM_021147.5
p.L83fs
c.247_248fs
1 paper
NM_021147.5
p.P84S
c.250C>T
2 papers
NM_021147.5
p.L83insFs
c.247_248ins5
1 paper
NM_021147.5
p.P84insFs
c.252dupC
13 papers
NM_021147.5
p.L83_P84insFs
c.248_252dup5
7 papers
NM_021147.5
p.G85fs
c.253_254fs
2 papers
NM_021147.5
p.G85fs
c.253_254fs
1 paper
NM_021147.5
p.P86L
c.257C>T
18 papers
NM_021147.5
p.Q88fs
c.262_263fs
3 papers
NM_021147.5
p.Q88*
c.262C>T
1 paper
NM_021147.5
p.Q88insFs
c.262_263ins4
4 papers
NM_021147.5
p.Q88insFs
c.262_263ins5
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."