LRR1
leucine rich repeat protein 1
Summary
The protein encoded by this gene contains a leucine-rich repeat (LRR). It specifically interacts with TNFRSF9/4-1BB, a member of the tumor necrosis factor receptor (TNFR) superfamily. Overexpression of this gene suppresses the activation of NF-kappa B induced by TNFRSF9 or TNF receptor-associated factor 2 (TRAF2), which suggests that this protein is a negative regulator of TNFRSF9-mediated signaling cascades. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs763651696 | 14:50,065,776 | A/T | — | uncertain significance |
| rs773076282 | 14:50,065,887 | C/G | — | uncertain significance |
| rs11625804 | 14:50,068,299 | C/T | — | — |
| rs904911038 | 14:50,069,089 | T/C | — | uncertain significance |
| rs766411123 | 14:50,069,148 | C/T | — | uncertain significance |
| rs755576107 | 14:50,069,158 | A/G | — | uncertain significance |
| rs756501349 | 14:50,069,161 | C/T | — | uncertain significance |
| rs546920395 | 14:50,069,183 | T/G | — | uncertain significance |
| rs2502711736 | 14:50,074,190 | C/T | — | uncertain significance |
| rs1360898457 | 14:50,074,217 | A/T | — | uncertain significance |
| rs2502712071 | 14:50,074,310 | C/T | — | uncertain significance |
| rs2502712361 | 14:50,074,409 | C/T | — | uncertain significance |
| rs376006121 | 14:50,074,428 | A/C | — | uncertain significance |
| rs369051720 | 14:50,074,494 | G/A | — | uncertain significance |
| rs2502712772 | 14:50,074,538 | A/C | — | uncertain significance |
| rs150690979 | 14:50,074,607 | G/A | — | uncertain significance |
| rs771415885 | 14:50,074,638 | T/C | — | uncertain significance |
| rs373427150 | 14:50,074,742 | G/A | — | uncertain significance |
| rs2502713461 | 14:50,074,765 | A/T | — | uncertain significance |
| rs1253699102 | 14:50,074,769 | C/T | — | uncertain significance |
| rs200757504 | 14:50,074,826 | A/G | — | likely benign |
| rs28396798 | 14:50,075,319 | C/G | — | — |
| rs201614832 | 14:50,080,982 | A/G | — | uncertain significance |
| rs186223942 | 14:50,080,993 | A/G | — | uncertain significance |
| rs202037682 | 14:50,081,029 | G/A | — | uncertain significance |
| rs190647437 | 14:50,081,124 | A/G | — | likely benign |
| rs1210714641 | 14:50,081,156 | T/G | — | uncertain significance |
| rs778848000 | 14:50,081,204 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.