Varaico: Literature-Extracted Genetic Variants

Gene:CCNO
Variant:p.E72A

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.E72A
c.215A>C
Surrounding Variants
1 paper
NM_021147.5
p.A76P
c.226G>C
1 paper
NM_021147.5
p.G67R
c.199G>C
1 paper
NM_021147.5
p.G67S
c.199G>A
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
2 papers
NM_021147.5
p.S63P
c.187T>C
2 papers
NM_021147.5
p.L83fs
c.247_248fs
3 papers
NM_021147.5
p.L83insFs
c.248_249ins5
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
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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."