RIOK3
RIO kinase 3
Summary
This gene was first identified by the similarity of its product to the Aspergillus nidulans SUDD protein. This gene is now recognized as a member of the right open reading frame (RIO) kinase gene family. This gene encodes a serine/threonine kinase that localizes to the cytoplasm and plays a role in the processing of the pre-40 S ribosomal subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9954741 | 18:21,039,393 | G/C | downstream gene variant | — |
| rs201383568 | 18:21,043,019 | A/C | — | uncertain significance |
| rs138447722 | 18:21,043,027 | G/A | — | uncertain significance |
| rs773688065 | 18:21,043,935 | G/T | — | uncertain significance |
| rs2510969287 | 18:21,043,950 | A/G | — | uncertain significance |
| rs765792971 | 18:21,043,975 | C/G | — | uncertain significance |
| rs1410632170 | 18:21,044,031 | G/A | — | uncertain significance |
| rs780828655 | 18:21,044,194 | G/A | — | uncertain significance |
| rs1436808142 | 18:21,044,492 | T/C | — | uncertain significance |
| rs370007403 | 18:21,046,209 | G/T | — | uncertain significance |
| rs756342756 | 18:21,047,481 | A/G | — | uncertain significance |
| rs140271614 | 18:21,049,734 | G/A | intron variant | — |
| rs370750384 | 18:21,053,542 | G/A | — | uncertain significance |
| rs756485853 | 18:21,053,554 | G/A | — | uncertain significance |
| rs148423683 | 18:21,054,915 | G/A | — | uncertain significance |
| rs752870756 | 18:21,055,000 | C/T | — | uncertain significance |
| rs1462927208 | 18:21,055,052 | C/T | — | uncertain significance |
| rs766237296 | 18:21,056,980 | A/G | — | uncertain significance |
| rs146753472 | 18:21,057,186 | C/T | — | uncertain significance |
| rs141264189 | 18:21,057,209 | C/T | — | uncertain significance |
| rs33969048 | 18:21,057,210 | G/A | missense variant | — |
| rs56282762 | 18:21,057,228 | C/T | missense variant | — |
| rs769672486 | 18:21,059,307 | A/C | — | uncertain significance |
| rs73967109 | 18:21,061,127 | T/C | — | benign |
| rs2057531843 | 18:21,061,164 | A/T | — | uncertain significance |
| rs765490579 | 18:21,061,233 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.