NOTCH1
notch receptor 1
Summary
This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016]
Known Variants3,034 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6563 | 9:139,389,184 | A/G | regulatory region variant | benign |
| rs11574912 | 9:139,390,387 | T/C | — | benign |
| rs3124591 | 9:139,390,397 | C/T | 3 prime UTR variant | benign |
| rs753404845 | 9:139,390,509 | G/T | — | likely benign |
| rs758237894 | 9:139,390,516 | G/A | — | benign |
| rs73668310 | 9:139,390,517 | C/T | — | benign |
| rs746945124 | 9:139,390,518 | G/A | — | conflicting classifications of pathogenicity |
| rs371575191 | 9:139,390,521 | G/A | — | likely benign |
| rs190691338 | 9:139,390,524 | T/C | — | likely benign |
| rs2133313653 | 9:139,390,533 | G/A | — | uncertain significance |
| rs182522714 | 9:139,390,534 | C/T | — | uncertain significance |
| rs759443061 | 9:139,390,538 | C/T | — | likely benign |
| rs774680812 | 9:139,390,539 | G/A | — | benign |
| rs188270459 | 9:139,390,543 | T/C | — | likely benign |
| rs767929506 | 9:139,390,545 | C/T | — | benign |
| rs200893930 | 9:139,390,546 | G/A | — | conflicting classifications of pathogenicity |
| rs761156723 | 9:139,390,549 | C/T | — | conflicting classifications of pathogenicity |
| rs370124241 | 9:139,390,550 | G/A | — | likely benign |
| rs754570072 | 9:139,390,559 | C/G | — | benign |
| rs764749582 | 9:139,390,560 | T/C | — | conflicting classifications of pathogenicity |
| rs752428699 | 9:139,390,564 | T/C | — | conflicting classifications of pathogenicity |
| rs2133313833 | 9:139,390,569 | G/A | — | uncertain significance |
| rs1842909670 | 9:139,390,571 | G/T | — | likely benign |
| rs375444185 | 9:139,390,574 | A/C | — | likely benign |
| rs1842909779 | 9:139,390,577 | G/A | — | likely benign |
| rs775100628 | 9:139,390,583 | G/A | — | likely benign |
| rs111627256 | 9:139,390,585 | C/T | — | conflicting classifications of pathogenicity |
| rs757253280 | 9:139,390,586 | G/A | — | likely benign |
| rs2133313933 | 9:139,390,587 | C/A | — | uncertain significance |
| rs781317676 | 9:139,390,592 | G/A | — | likely benign |
| rs371067732 | 9:139,390,601 | G/A | — | likely benign |
| rs1052013977 | 9:139,390,606 | C/T | — | likely benign |
| rs778937268 | 9:139,390,607 | G/A | — | likely benign |
| rs375576856 | 9:139,390,616 | C/G | — | likely benign |
| rs567323027 | 9:139,390,617 | G/A | — | uncertain significance |
| rs534623042 | 9:139,390,622 | C/T | — | likely benign |
| rs1554826328 | 9:139,390,623 | G/A | — | uncertain significance |
| rs771410115 | 9:139,390,637 | G/C | — | uncertain significance |
| rs2133314214 | 9:139,390,642 | G/A | — | uncertain significance |
| rs1365732147 | 9:139,390,646 | C/A | — | uncertain significance |
| rs1564567473 | 9:139,390,650 | G/A | — | uncertain significance |
| rs758931699 | 9:139,390,652 | G/A | — | likely benign |
| rs192299793 | 9:139,390,655 | C/T | — | likely benign |
| rs2133314336 | 9:139,390,659 | G/T | — | uncertain significance |
| rs1554826340 | 9:139,390,662 | A/G | — | uncertain significance |
| rs34152221 | 9:139,390,676 | A/C | — | benign |
| rs2133314443 | 9:139,390,681 | C/T | — | uncertain significance |
| rs1842911122 | 9:139,390,684 | G/A | — | uncertain significance |
| rs2133314462 | 9:139,390,685 | T/C | — | likely benign |
| rs763902589 | 9:139,390,693 | G/C | — | conflicting classifications of pathogenicity |
| rs1842911325 | 9:139,390,696 | T/G | — | uncertain significance |
| rs1216276308 | 9:139,390,697 | G/A | — | likely benign |
| rs1842911385 | 9:139,390,699 | G/C | — | uncertain significance |
| rs2133314534 | 9:139,390,701 | G/T | — | uncertain significance |
| rs2133314548 | 9:139,390,703 | G/A | — | likely benign |
| rs2133314562 | 9:139,390,706 | G/T | — | uncertain significance |
| rs1268405497 | 9:139,390,709 | C/T | — | conflicting classifications of pathogenicity |
| rs751367016 | 9:139,390,716 | G/A | — | conflicting classifications of pathogenicity |
| rs2133314630 | 9:139,390,718 | G/A | — | likely benign |
| rs757165853 | 9:139,390,719 | G/T | — | uncertain significance |
| rs1208693439 | 9:139,390,728 | T/C | — | uncertain significance |
| rs1248949192 | 9:139,390,730 | C/T | — | likely benign |
| rs781225824 | 9:139,390,733 | C/T | — | likely benign |
| rs1183279486 | 9:139,390,734 | G/A | — | uncertain significance |
| rs1414616532 | 9:139,390,736 | G/T | — | likely benign |
| rs375728200 | 9:139,390,742 | C/T | — | likely benign |
| rs1554826355 | 9:139,390,753 | G/A | — | uncertain significance |
| rs2133314848 | 9:139,390,758 | G/C | — | uncertain significance |
| rs779039862 | 9:139,390,759 | C/T | — | likely benign |
| rs748244353 | 9:139,390,760 | G/A | — | likely benign |
| rs1373474592 | 9:139,390,761 | G/A | — | uncertain significance |
| rs763785541 | 9:139,390,765 | C/T | — | conflicting classifications of pathogenicity |
| rs772308416 | 9:139,390,766 | G/A | — | likely benign |
| rs2133314908 | 9:139,390,768 | G/A | — | uncertain significance |
| rs1358523874 | 9:139,390,774 | C/T | — | uncertain significance |
| rs558374809 | 9:139,390,775 | C/A | — | likely benign |
| rs367706382 | 9:139,390,778 | C/T | — | likely benign |
| rs777059689 | 9:139,390,781 | G/C | — | likely benign |
| rs2540420335 | 9:139,390,784 | T/C | — | likely benign |
| rs1480618339 | 9:139,390,786 | G/A | — | uncertain significance |
| rs2133315021 | 9:139,390,789 | G/T | — | uncertain significance |
| rs371306178 | 9:139,390,790 | C/A | — | likely benign |
| rs375025242 | 9:139,390,791 | G/A | — | conflicting classifications of pathogenicity |
| rs775056799 | 9:139,390,793 | C/T | — | likely benign |
| rs369167555 | 9:139,390,794 | G/A | — | conflicting classifications of pathogenicity |
| rs372760677 | 9:139,390,801 | G/A | — | likely benign |
| rs2133315099 | 9:139,390,802 | G/T | — | likely benign |
| rs537210445 | 9:139,390,804 | C/T | — | conflicting classifications of pathogenicity |
| rs369470875 | 9:139,390,805 | G/A | — | likely benign |
| rs767435492 | 9:139,390,806 | G/A | — | conflicting classifications of pathogenicity |
| rs750245108 | 9:139,390,809 | C/A | — | conflicting classifications of pathogenicity |
| rs1317170488 | 9:139,390,814 | C/T | — | likely benign |
| rs752802795 | 9:139,390,819 | G/T | — | conflicting classifications of pathogenicity |
| rs61755043 | 9:139,390,822 | G/C | — | likely benign |
| rs777934565 | 9:139,390,825 | T/C | — | likely benign |
| rs2133315231 | 9:139,390,826 | A/G | — | likely benign |
| rs536167222 | 9:139,390,828 | T/C | — | conflicting classifications of pathogenicity |
| rs574436740 | 9:139,390,834 | C/T | — | likely benign |
| rs781520893 | 9:139,390,835 | C/T | — | likely benign |
| rs746280413 | 9:139,390,836 | G/A | — | conflicting classifications of pathogenicity |
Showing 100 of 3,034 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.