Varaico: Literature-Extracted Genetic Variants

Gene:CCNO
Variant:p.R244H

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.R244H
c.731G>A
Surrounding Variants
1 paper
NM_021147.5
p.R244P
c.731G>C
2 papers
NM_021147.5
p.A247_G248ins5
c.739_743ins15
3 papers
NM_021147.5
p.G248_Q249ins5
c.742_746ins15
1 paper
NM_021147.5
p.H239R
c.716A>G
1 paper
NM_021147.5
p.E251Q
c.751G>C
1 paper
NM_021147.5
p.E257K
c.769G>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.G229S
c.685G>A
1 paper
NM_021147.5
p.L228P
c.683T>C
1 paper
NM_021147.5
p.A260A
c.780C>T
2 papers
NM_021147.5
p.L261delFs
c.781delG
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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."