NOL6
nucleolar protein 6
Summary
The nucleolus is a dense subnuclear membraneless organelle that assembles around clusters of rRNA genes and functions in ribosome biogenesis. This gene encodes a nucleolar RNA-associated protein that is highly conserved between species. RNase treatment of permeabilized cells indicates that the nucleolar localization is RNA dependent. Further studies suggest that the protein is associated with ribosome biogenesis through an interaction with pre-rRNA primary transcripts. Alternative splicing has been observed at this locus and two splice variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs939580062 | 9:33,463,415 | T/C | — | uncertain significance |
| rs114911109 | 9:33,464,083 | G/T | — | likely benign |
| rs138543416 | 9:33,466,088 | G/A | — | uncertain significance |
| rs1346126712 | 9:33,466,103 | C/A | — | uncertain significance |
| rs111688613 | 9:33,466,142 | C/T | — | likely benign |
| rs780346321 | 9:33,466,347 | C/T | — | uncertain significance |
| rs35135082 | 9:33,466,348 | G/A | — | uncertain significance |
| rs200085062 | 9:33,466,372 | G/A | — | uncertain significance |
| rs2489991805 | 9:33,466,391 | G/A | — | likely benign |
| rs144642460 | 9:33,466,673 | G/A | — | uncertain significance |
| rs145177147 | 9:33,467,226 | G/A | — | uncertain significance |
| rs137958614 | 9:33,467,780 | G/A | — | uncertain significance |
| rs376740139 | 9:33,468,975 | C/T | — | uncertain significance |
| rs115693717 | 9:33,469,096 | G/A | — | uncertain significance |
| rs141550712 | 9:33,471,040 | G/A | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.