RPS6KB1
ribosomal protein S6 kinase B1
Summary
This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [provided by RefSeq, Jan 2013]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs773013562 | 17:57,970,560 | G/T | — | uncertain significance |
| rs756132794 | 17:57,970,597 | G/A | — | uncertain significance |
| rs2509325123 | 17:57,970,606 | G/A | — | uncertain significance |
| rs2509325279 | 17:57,970,621 | G/A | — | uncertain significance |
| rs769152306 | 17:57,970,660 | G/T | — | uncertain significance |
| rs763484257 | 17:57,970,668 | G/C | — | uncertain significance |
| rs56376112 | 17:57,970,680 | G/A | — | benign |
| rs775849346 | 17:57,970,694 | C/G | — | likely benign |
| rs8068913 | 17:57,973,096 | C/T | upstream gene variant | — |
| rs1298843 | 17:57,975,157 | T/C | upstream gene variant | — |
| rs199552698 | 17:57,979,002 | A/G | — | — |
| rs8072803 | 17:57,986,240 | G/C | — | — |
| rs8072413 | 17:57,986,256 | A/T | — | — |
| rs771005046 | 17:57,987,923 | G/T | — | uncertain significance |
| rs61041805 | 17:57,988,880 | C/G | — | — |
| rs74702949 | 17:57,991,988 | T/A | — | benign |
| rs12941139 | 17:57,993,161 | A/T | — | — |
| rs180534 | 17:57,999,440 | T/C | intron variant | — |
| rs2645463 | 17:58,000,233 | G/T | — | — |
| rs183590386 | 17:58,003,848 | A/G | — | uncertain significance |
| rs7225558 | 17:58,021,268 | C/A | — | — |
| rs1415771859 | 17:58,022,867 | G/A | — | uncertain significance |
| rs146927684 | 17:58,022,875 | G/C | — | uncertain significance |
| rs2044939292 | 17:58,023,955 | T/C | — | uncertain significance |
| rs2509617682 | 17:58,024,001 | A/C | — | uncertain significance |
| rs180515 | 17:58,024,275 | A/G | 3 prime UTR variant | — |
| rs1051424 | 17:58,024,324 | A/G | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.