RBPJ
recombination signal binding protein for immunoglobulin kappa J region
Summary
The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013]
Known Variants159 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs874040 | 4:26,108,197 | G/C | intergenic variant | — |
| rs34046593 | 4:26,111,593 | G/A | upstream gene variant | — |
| rs6848239 | 4:26,114,046 | A/G | coding sequence variant | — |
| rs11933540 | 4:26,120,001 | T/C | downstream gene variant | — |
| rs6448435 | 4:26,125,335 | C/T | intergenic variant | — |
| rs907499 | 4:26,137,019 | C/T | intergenic variant | — |
| rs11730491 | 4:26,174,563 | G/T | intron variant | — |
| rs73245724 | 4:26,198,292 | A/G | intron variant | — |
| rs114530054 | 4:26,223,789 | C/T | — | benign |
| rs7695004 | 4:26,303,026 | C/G | — | — |
| rs11728265 | 4:26,307,974 | C/G | — | — |
| rs186895314 | 4:26,320,064 | G/A | — | benign |
| rs771282383 | 4:26,321,503 | G/C | — | likely benign |
| rs1371194134 | 4:26,321,513 | A/C | — | uncertain significance |
| rs7657866 | 4:26,322,042 | G/A | — | benign |
| rs28691136 | 4:26,322,122 | G/T | — | likely benign |
| rs76524079 | 4:26,322,274 | G/A | — | likely benign |
| rs1229623895 | 4:26,322,379 | A/T | — | uncertain significance |
| rs1215606918 | 4:26,322,398 | C/A | — | uncertain significance |
| rs1382137277 | 4:26,322,412 | C/G | — | uncertain significance |
| rs1722936793 | 4:26,322,415 | C/T | — | uncertain significance |
| rs1722941418 | 4:26,322,444 | T/C | — | likely benign |
| rs978327335 | 4:26,322,447 | C/T | — | likely benign |
| rs200338350 | 4:26,322,449 | G/C | — | benign |
| rs185848565 | 4:26,322,539 | G/A | — | benign |
| rs7694869 | 4:26,331,471 | A/G | intron variant | — |
| rs7695029 | 4:26,331,472 | C/G | — | — |
| rs78445835 | 4:26,333,392 | T/G | — | benign |
| rs13144326 | 4:26,336,243 | C/T | — | benign |
| rs6853254 | 4:26,352,363 | T/G | — | benign |
| rs142536884 | 4:26,353,630 | A/G | intron variant | — |
| rs73245775 | 4:26,361,568 | G/A | — | benign |
| rs78672655 | 4:26,367,119 | T/C | — | benign |
| rs7655165 | 4:26,385,335 | G/A | — | benign |
| rs539980485 | 4:26,387,983 | G/T | — | uncertain significance |
| rs560192327 | 4:26,387,998 | C/T | — | uncertain significance |
| rs577395888 | 4:26,388,000 | A/G | — | uncertain significance |
| rs2475086201 | 4:26,388,001 | A/C | — | uncertain significance |
| rs369569682 | 4:26,388,004 | G/A | — | uncertain significance |
| rs781712332 | 4:26,388,017 | A/G | — | uncertain significance |
| rs199615378 | 4:26,388,027 | T/G | — | likely benign |
| rs186035024 | 4:26,390,344 | A/C | — | benign |
| rs12650452 | 4:26,402,667 | T/C | — | benign |
| rs13135156 | 4:26,407,512 | G/A | — | benign |
| rs3109839 | 4:26,407,681 | A/G | — | benign |
| rs6847065 | 4:26,407,729 | G/A | — | benign |
| rs1010932580 | 4:26,407,784 | T/C | — | likely benign |
| rs141690523 | 4:26,407,808 | G/A | — | uncertain significance |
| rs150528384 | 4:26,407,835 | A/G | — | uncertain significance |
| rs769300879 | 4:26,407,840 | G/A | — | uncertain significance |
| rs1162207910 | 4:26,407,866 | A/G | — | likely benign |
| rs1553878198 | 4:26,407,867 | C/G | — | likely pathogenic |
| rs2475203966 | 4:26,407,877 | A/G | — | uncertain significance |
| rs3113014 | 4:26,407,878 | T/C | — | benign |
| rs387907270 | 4:26,407,886 | A/G | missense variant | pathogenic |
| rs1553878211 | 4:26,407,891 | A/G | — | likely pathogenic |
| rs2475204247 | 4:26,407,892 | G/C | — | likely pathogenic |
| rs140858403 | 4:26,408,095 | A/G | — | likely benign |
| rs12639629 | 4:26,414,770 | G/C | — | benign |
| rs2270225 | 4:26,416,886 | G/A | — | benign |
| rs77361009 | 4:26,416,918 | G/A | — | benign |
| rs201811154 | 4:26,417,079 | T/C | — | benign |
| rs529513495 | 4:26,417,088 | A/T | — | benign |
| rs749479568 | 4:26,417,090 | T/G | — | likely benign |
| rs1553880029 | 4:26,417,098 | T/G | — | likely pathogenic |
| rs771216421 | 4:26,417,129 | T/C | — | uncertain significance |
| rs2270226 | 4:26,417,136 | T/C | — | benign |
| rs1460610968 | 4:26,417,145 | G/A | — | likely benign |
| rs2475271337 | 4:26,417,149 | A/G | — | uncertain significance |
| rs771759532 | 4:26,417,167 | C/T | — | uncertain significance |
| rs147349346 | 4:26,417,170 | G/A | — | uncertain significance |
| rs752922399 | 4:26,417,198 | C/G | — | uncertain significance |
| rs1064366 | 4:26,417,199 | G/T | — | likely benign |
| rs1734500474 | 4:26,417,200 | T/C | — | uncertain significance |
| rs749250893 | 4:26,417,223 | T/C | — | likely benign |
| rs2475272678 | 4:26,417,257 | G/A | — | uncertain significance |
| rs1439518484 | 4:26,417,270 | A/G | — | likely benign |
| rs201459063 | 4:26,417,280 | G/C | — | likely benign |
| rs367644035 | 4:26,417,409 | C/T | — | likely benign |
| rs116804634 | 4:26,417,445 | C/T | — | likely benign |
| rs79533922 | 4:26,417,668 | G/A | — | benign |
| rs16878309 | 4:26,422,002 | T/G | — | likely benign |
| rs2788856 | 4:26,422,044 | G/T | — | benign |
| rs1577662911 | 4:26,422,219 | G/A | — | uncertain significance |
| rs1577662961 | 4:26,422,245 | A/G | — | uncertain significance |
| rs2475305533 | 4:26,422,255 | G/T | — | uncertain significance |
| rs766217969 | 4:26,422,256 | C/T | — | likely benign |
| rs1161215655 | 4:26,422,267 | A/T | — | uncertain significance |
| rs778887785 | 4:26,422,291 | G/A | — | uncertain significance |
| rs2475305995 | 4:26,422,293 | A/G | — | uncertain significance |
| rs568110128 | 4:26,422,298 | A/G | — | likely benign |
| rs2475306199 | 4:26,422,312 | C/T | — | uncertain significance |
| rs145833067 | 4:26,422,313 | T/C | — | likely benign |
| rs387907271 | 4:26,422,317 | A/G | missense variant | pathogenic |
| rs17639483 | 4:26,422,507 | G/A | — | benign |
| rs16878322 | 4:26,425,851 | C/G | — | benign |
| rs112254700 | 4:26,425,915 | C/T | — | likely benign |
| rs571046088 | 4:26,425,961 | C/T | — | uncertain significance |
| rs148972743 | 4:26,426,005 | C/T | — | likely benign |
| rs774456375 | 4:26,426,019 | A/G | — | uncertain significance |
Showing 100 of 159 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.