TSC1
TSC complex subunit 1
Summary
This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including TSC2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]
Known Variants2,993 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs79220715 | 9:135,766,724 | C/T | — | benign |
| rs886063562 | 9:135,766,777 | C/A | — | uncertain significance |
| rs886063563 | 9:135,766,796 | T/G | — | uncertain significance |
| rs576342925 | 9:135,766,834 | T/G | — | benign |
| rs79470094 | 9:135,766,859 | A/G | — | benign |
| rs747969932 | 9:135,766,942 | C/A | — | conflicting classifications of pathogenicity |
| rs886063564 | 9:135,767,000 | C/T | — | uncertain significance |
| rs397514821 | 9:135,767,031 | C/A | — | not provided |
| rs1036825417 | 9:135,767,084 | T/C | — | uncertain significance |
| rs918338551 | 9:135,767,100 | G/A | — | uncertain significance |
| rs886063565 | 9:135,767,107 | C/T | — | uncertain significance |
| rs889436708 | 9:135,767,130 | A/G | — | uncertain significance |
| rs112968492 | 9:135,767,175 | G/A | — | uncertain significance |
| rs11553763 | 9:135,767,185 | C/T | — | benign |
| rs552453527 | 9:135,767,237 | C/A | — | benign |
| rs886063566 | 9:135,767,266 | G/A | — | uncertain significance |
| rs139801034 | 9:135,767,368 | C/T | — | uncertain significance |
| rs886063567 | 9:135,767,374 | G/A | — | uncertain significance |
| rs886063568 | 9:135,767,389 | C/A | — | uncertain significance |
| rs886063569 | 9:135,767,429 | T/G | — | uncertain significance |
| rs886063570 | 9:135,767,455 | G/T | — | uncertain significance |
| rs886063571 | 9:135,767,463 | C/A | — | uncertain significance |
| rs886063572 | 9:135,767,494 | C/T | — | uncertain significance |
| rs1844802090 | 9:135,767,503 | A/G | — | uncertain significance |
| rs1588276922 | 9:135,767,517 | G/A | — | uncertain significance |
| rs886063573 | 9:135,767,550 | C/T | — | uncertain significance |
| rs17149898 | 9:135,767,565 | T/C | — | benign |
| rs148982924 | 9:135,767,625 | C/T | — | uncertain significance |
| rs563835484 | 9:135,767,634 | C/T | — | likely benign |
| rs886063574 | 9:135,767,635 | T/C | — | uncertain significance |
| rs1445439695 | 9:135,767,663 | A/G | — | uncertain significance |
| rs114454155 | 9:135,767,670 | T/C | — | benign |
| rs397514853 | 9:135,767,686 | G/A | — | not provided |
| rs397514787 | 9:135,767,687 | G/A | — | not provided |
| rs886063575 | 9:135,767,698 | C/A | — | uncertain significance |
| rs572231078 | 9:135,767,786 | C/T | — | uncertain significance |
| rs575812223 | 9:135,767,789 | G/T | — | likely benign |
| rs544931538 | 9:135,767,792 | G/A | — | conflicting classifications of pathogenicity |
| rs886063576 | 9:135,767,885 | G/T | — | uncertain significance |
| rs543396172 | 9:135,767,893 | C/A | — | benign |
| rs1844826893 | 9:135,767,937 | C/T | — | uncertain significance |
| rs1050700 | 9:135,767,943 | C/T | — | benign |
| rs886063577 | 9:135,767,964 | C/T | — | uncertain significance |
| rs113313202 | 9:135,767,974 | G/A | — | uncertain significance |
| rs771494783 | 9:135,768,057 | G/A | — | uncertain significance |
| rs886063578 | 9:135,768,079 | G/T | — | uncertain significance |
| rs533324867 | 9:135,768,084 | T/C | — | benign |
| rs886063579 | 9:135,768,091 | C/A | — | uncertain significance |
| rs1335423130 | 9:135,768,138 | T/C | — | uncertain significance |
| rs201092466 | 9:135,768,174 | G/A | — | benign |
| rs553475307 | 9:135,768,292 | C/A | — | uncertain significance |
| rs886063580 | 9:135,768,337 | C/A | — | uncertain significance |
| rs886063581 | 9:135,768,338 | G/T | — | uncertain significance |
| rs866920023 | 9:135,768,350 | T/C | — | uncertain significance |
| rs397514782 | 9:135,768,362 | C/G | — | not provided |
| rs397514877 | 9:135,768,364 | C/G | — | not provided |
| rs886063583 | 9:135,768,382 | C/A | — | uncertain significance |
| rs886063584 | 9:135,768,383 | C/A | — | uncertain significance |
| rs886063585 | 9:135,768,384 | A/G | — | uncertain significance |
| rs367605870 | 9:135,768,452 | C/T | — | uncertain significance |
| rs1844856793 | 9:135,768,530 | A/G | — | uncertain significance |
| rs886063586 | 9:135,768,559 | T/A | — | uncertain significance |
| rs886063587 | 9:135,768,575 | G/T | — | uncertain significance |
| rs746365344 | 9:135,768,577 | T/C | — | uncertain significance |
| rs764220703 | 9:135,768,588 | A/G | — | uncertain significance |
| rs886063588 | 9:135,768,673 | T/A | — | uncertain significance |
| rs1844864883 | 9:135,768,698 | A/G | — | uncertain significance |
| rs559978998 | 9:135,768,718 | C/A | — | conflicting classifications of pathogenicity |
| rs886063589 | 9:135,768,725 | T/C | — | uncertain significance |
| rs946784136 | 9:135,768,732 | T/C | — | uncertain significance |
| rs111832812 | 9:135,768,748 | C/T | — | benign |
| rs2106345 | 9:135,768,750 | C/T | — | benign |
| rs899761882 | 9:135,768,768 | A/G | — | uncertain significance |
| rs886063591 | 9:135,768,793 | T/C | — | uncertain significance |
| rs73552805 | 9:135,768,889 | T/C | — | benign |
| rs749535135 | 9:135,768,898 | G/A | — | uncertain significance |
| rs150433809 | 9:135,768,914 | C/G | — | benign |
| rs886063592 | 9:135,768,931 | T/A | — | uncertain significance |
| rs886063593 | 9:135,768,943 | A/G | — | uncertain significance |
| rs886063594 | 9:135,768,964 | C/A | — | uncertain significance |
| rs55660990 | 9:135,768,971 | A/C | — | benign |
| rs886063595 | 9:135,768,975 | G/A | — | uncertain significance |
| rs886063596 | 9:135,768,978 | C/A | — | uncertain significance |
| rs397514827 | 9:135,768,981 | C/A | — | not provided |
| rs373845353 | 9:135,768,984 | G/A | — | conflicting classifications of pathogenicity |
| rs538802838 | 9:135,768,985 | G/C | — | uncertain significance |
| rs886063597 | 9:135,768,990 | T/C | — | uncertain significance |
| rs189852768 | 9:135,768,994 | C/G | — | benign |
| rs886063598 | 9:135,769,007 | G/T | — | uncertain significance |
| rs886063599 | 9:135,769,046 | A/G | — | uncertain significance |
| rs115516164 | 9:135,769,064 | T/G | — | uncertain significance |
| rs886878529 | 9:135,769,107 | A/G | — | uncertain significance |
| rs886063600 | 9:135,769,147 | G/T | — | uncertain significance |
| rs73552806 | 9:135,769,161 | C/T | — | benign |
| rs558966777 | 9:135,769,176 | T/C | — | uncertain significance |
| rs886063601 | 9:135,769,183 | G/T | — | uncertain significance |
| rs149587565 | 9:135,769,185 | C/T | — | benign |
| rs114415181 | 9:135,769,204 | C/T | — | benign |
| rs886063602 | 9:135,769,258 | A/T | — | uncertain significance |
| rs114877981 | 9:135,769,268 | T/C | — | benign |
Showing 100 of 2,993 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.