RBPJL
recombination signal binding protein for immunoglobulin kappa J region like
Summary
This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signaling pathway transcription factor recombining binding protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs143311170 | 20:43,785,791 | A/G | — | benign |
| rs59339622 | 20:43,882,833 | G/A | — | benign |
| rs79312216 | 20:43,907,877 | T/C | — | benign |
| rs76474829 | 20:43,914,005 | C/G | — | risk factor |
| rs961418965 | 20:43,932,165 | G/A | — | benign |
| rs1284438754 | 20:43,935,575 | G/A | — | uncertain significance |
| rs138228405 | 20:43,936,302 | C/G | — | benign |
| rs747490348 | 20:43,936,860 | G/A | — | uncertain significance |
| rs200750997 | 20:43,936,876 | C/G | — | uncertain significance |
| rs2076027 | 20:43,937,818 | C/T | — | benign |
| rs921581929 | 20:43,938,259 | C/A | — | uncertain significance |
| rs369083610 | 20:43,938,283 | C/T | — | uncertain significance |
| rs35032855 | 20:43,938,284 | G/A | — | benign |
| rs1339158046 | 20:43,940,277 | G/T | — | uncertain significance |
| rs1042961966 | 20:43,940,290 | C/G | — | uncertain significance |
| rs139100496 | 20:43,940,931 | G/A | — | uncertain significance |
| rs778202404 | 20:43,940,945 | G/T | — | uncertain significance |
| rs149866429 | 20:43,940,952 | G/C | — | uncertain significance |
| rs762532634 | 20:43,940,994 | C/T | — | uncertain significance |
| rs370206478 | 20:43,942,173 | C/T | — | uncertain significance |
| rs552843568 | 20:43,942,197 | G/A | — | uncertain significance |
| rs923249010 | 20:43,942,211 | T/G | — | uncertain significance |
| rs2076026 | 20:43,942,676 | T/C | — | benign |
| rs150441483 | 20:43,942,711 | G/A | — | uncertain significance |
| rs568551533 | 20:43,942,722 | G/A | — | uncertain significance |
| rs200998587 | 20:43,942,756 | C/T | — | risk factor |
| rs377003156 | 20:43,943,060 | G/A | — | uncertain significance |
| rs759789875 | 20:43,943,174 | G/A | — | uncertain significance |
| rs1480987710 | 20:43,943,176 | C/T | — | uncertain significance |
| rs6032110 | 20:43,944,323 | A/G | intron variant | — |
| rs553784068 | 20:43,944,834 | C/G | — | uncertain significance |
| rs375073038 | 20:43,944,840 | C/G | — | uncertain significance |
| rs2515622862 | 20:43,944,924 | C/A | — | uncertain significance |
| rs1987488599 | 20:43,945,333 | C/T | — | uncertain significance |
| rs35220957 | 20:43,945,377 | C/A | — | benign |
| rs1555859311 | 20:43,945,378 | G/A | — | benign |
| rs753053487 | 20:43,945,379 | A/T | — | uncertain significance |
| rs1393715236 | 20:43,945,384 | C/T | — | uncertain significance |
| rs61754060 | 20:43,945,423 | G/A | — | uncertain significance |
| rs760954854 | 20:43,945,454 | C/A | — | uncertain significance |
| rs34078698 | 20:43,945,487 | T/C | — | benign |
| rs2515624098 | 20:43,945,492 | C/A | — | uncertain significance |
| rs747059795 | 20:43,945,582 | C/G | — | uncertain significance |
| rs11698812 | 20:43,948,221 | C/A | — | benign |
| rs720063 | 20:43,953,076 | T/G | — | benign |
| rs985586 | 20:43,957,510 | G/A | — | benign |
| rs2425696 | 20:43,958,755 | A/G | — | benign |
| rs2072792 | 20:43,964,288 | T/C | — | benign |
| rs147593522 | 20:43,965,525 | A/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.