RPTOR
regulatory associated protein of MTOR complex 1
Summary
This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Known Variants88 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10438820 | 17:78,524,597 | C/T | intron variant | — |
| rs7217900 | 17:78,528,751 | T/C | intron variant | — |
| rs139293840 | 17:78,530,359 | G/A | intron variant | — |
| rs72855201 | 17:78,530,597 | A/G | intron variant | — |
| rs188077359 | 17:78,534,655 | G/A | intron variant | — |
| rs11150865 | 17:78,547,433 | C/T | intron variant | — |
| rs565596094 | 17:78,550,786 | G/A | — | — |
| rs72856551 | 17:78,552,267 | G/T | intron variant | — |
| rs28434589 | 17:78,558,082 | G/A | intron variant | — |
| rs149303189 | 17:78,571,244 | C/T | regulatory region variant | — |
| rs62068300 | 17:78,574,727 | G/T | — | — |
| rs2315927 | 17:78,578,898 | C/T | upstream gene variant | — |
| rs11653499 | 17:78,584,303 | G/A | intron variant | — |
| rs7503807 | 17:78,591,111 | A/C | intron variant | — |
| rs12936815 | 17:78,591,874 | G/A | intron variant | — |
| rs4889867 | 17:78,593,058 | C/G | — | — |
| rs60268947 | 17:78,603,006 | G/T | — | — |
| rs12939549 | 17:78,611,724 | A/G | intron variant | — |
| rs201259050 | 17:78,617,545 | C/G | — | uncertain significance |
| rs62068358 | 17:78,620,063 | A/G | intron variant | — |
| rs7212142 | 17:78,623,941 | G/A | regulatory region variant | — |
| rs62069681 | 17:78,624,702 | T/C | intron variant | — |
| rs7217702 | 17:78,645,929 | C/G | intron variant | — |
| rs180680479 | 17:78,648,281 | G/C | intron variant | — |
| rs2019154 | 17:78,654,344 | G/A | intron variant | — |
| rs140711534 | 17:78,674,979 | A/C | intron variant | — |
| rs8074892 | 17:78,684,371 | A/C | — | — |
| rs7211818 | 17:78,688,903 | A/T | — | — |
| rs9674559 | 17:78,715,608 | A/T | — | — |
| rs574761970 | 17:78,721,517 | A/T | — | — |
| rs117835109 | 17:78,723,818 | T/C | intron variant | — |
| rs202162615 | 17:78,727,819 | A/G | — | uncertain significance |
| rs2066656852 | 17:78,727,915 | A/G | — | uncertain significance |
| rs7215564 | 17:78,737,287 | C/T | intron variant | — |
| rs150893173 | 17:78,740,325 | C/G | intron variant | — |
| rs150647374 | 17:78,747,397 | T/C | intron variant | — |
| rs778645236 | 17:78,760,201 | T/A | — | — |
| rs2510072571 | 17:78,796,018 | A/G | — | uncertain significance |
| rs2510072584 | 17:78,796,029 | A/G | — | uncertain significance |
| rs551303974 | 17:78,796,699 | G/A | — | — |
| rs1567931518 | 17:78,796,969 | A/G | — | uncertain significance |
| rs370002882 | 17:78,811,769 | C/T | — | uncertain significance |
| rs113149562 | 17:78,811,770 | G/A | — | benign |
| rs181547485 | 17:78,815,527 | A/T | — | — |
| rs374210888 | 17:78,820,330 | G/A | — | uncertain significance |
| rs754090886 | 17:78,831,639 | C/T | — | uncertain significance |
| rs572833876 | 17:78,831,645 | G/A | — | uncertain significance |
| rs2289759 | 17:78,854,223 | A/G | synonymous variant | — |
| rs149125700 | 17:78,854,273 | C/T | — | uncertain significance |
| rs151265255 | 17:78,857,228 | C/A | — | likely benign |
| rs548409186 | 17:78,857,277 | C/T | — | uncertain significance |
| rs34848699 | 17:78,857,278 | G/A | — | benign |
| rs112773678 | 17:78,857,649 | G/T | — | likely benign |
| rs61733885 | 17:78,857,727 | C/T | — | benign |
| rs2068213525 | 17:78,857,770 | G/A | — | uncertain significance |
| rs34554642 | 17:78,858,816 | C/T | — | benign |
| rs897296009 | 17:78,858,934 | C/G | — | uncertain significance |
| rs1317043218 | 17:78,858,947 | A/T | — | uncertain significance |
| rs2510139362 | 17:78,865,547 | G/A | — | uncertain significance |
| rs2068327147 | 17:78,865,550 | G/T | — | uncertain significance |
| rs570450353 | 17:78,867,332 | G/A | — | — |
| rs2143878351 | 17:78,867,593 | C/T | — | likely benign |
| rs1330542020 | 17:78,867,635 | A/G | — | uncertain significance |
| rs368832014 | 17:78,896,530 | G/A | — | uncertain significance |
| rs994896414 | 17:78,897,331 | C/T | — | uncertain significance |
| rs1323990870 | 17:78,897,345 | A/C | — | uncertain significance |
| rs769393175 | 17:78,897,378 | C/T | — | uncertain significance |
| rs201551267 | 17:78,899,218 | G/A | — | uncertain significance |
| rs150835528 | 17:78,899,222 | C/T | — | uncertain significance |
| rs145454151 | 17:78,914,301 | A/G | — | benign |
| rs368881284 | 17:78,919,556 | G/A | — | uncertain significance |
| rs115433836 | 17:78,919,588 | A/G | — | likely benign |
| rs73357864 | 17:78,919,590 | C/T | — | benign |
| rs9912110 | 17:78,921,108 | G/A | — | benign |
| rs1161634864 | 17:78,923,254 | A/G | — | uncertain significance |
| rs749994413 | 17:78,923,342 | C/T | — | uncertain significance |
| rs4969315 | 17:78,925,383 | A/G | intron variant | — |
| rs750857501 | 17:78,931,513 | C/T | — | uncertain significance |
| rs753958351 | 17:78,935,206 | G/A | — | likely benign |
| rs1326619477 | 17:78,935,213 | G/C | — | uncertain significance |
| rs985010259 | 17:78,935,231 | G/A | — | uncertain significance |
| rs761048420 | 17:78,936,278 | G/A | — | uncertain significance |
| rs2510203422 | 17:78,936,332 | G/C | — | uncertain significance |
| rs201115099 | 17:78,936,760 | A/G | — | uncertain significance |
| rs780300677 | 17:78,938,086 | G/A | — | uncertain significance |
| rs1044306323 | 17:78,938,101 | G/A | — | uncertain significance |
| rs3751936 | 17:78,938,204 | G/C | regulatory region variant | — |
| rs7223311 | 17:78,940,614 | C/G | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.