RRBP1

ribosome binding protein 1

Summary

This gene encodes a ribosome-binding protein of the endoplasmic reticulum (ER) membrane. Studies suggest that this gene plays a role in ER proliferation, secretory pathways and secretory cell differentiation, and mediation of ER-microtubule interactions. Alternative splicing has been observed and protein isoforms are characterized by regions of N-terminal decapeptide and C-terminal heptad repeats. Splicing of the tandem repeats results in variations in ribosome-binding affinity and secretory function. The full-length nature of variants which differ in repeat length has not been determined. Pseudogenes of this gene have been identified on chromosomes 3 and 7, and RRBP1 has been excluded as a candidate gene in the cause of Alagille syndrome, the result of a mutation in a nearby gene on chromosome 20p12. [provided by RefSeq, Apr 2012]

Known Variants99 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11693313120:17,594,886C/Tregulatory region variant—
rs20169566520:17,595,399C/T—uncertain significance
rs222988720:17,595,470C/T—benign
rs55100781920:17,595,480C/T—uncertain significance
rs36816095520:17,596,128C/A—uncertain significance
rs180196420:17,596,173G/C—uncertain significance
rs94297556620:17,596,575T/C—uncertain significance
rs6173709420:17,596,582C/T—likely benign
rs1155170420:17,596,586C/T—benign
rs222989320:17,596,587G/Amissense variant—
rs36898238820:17,596,591G/A—uncertain significance
rs5610237620:17,597,369G/A—benign
rs3447955220:17,597,382C/T—benign
rs20022413420:17,597,394C/T—uncertain significance
rs20121153320:17,597,403G/A—uncertain significance
rs54725162620:17,597,451C/T—uncertain significance
rs481463020:17,598,240G/Aregulatory region variant—
rs55034768920:17,600,310C/T—uncertain significance
rs37441550220:17,600,324G/A—uncertain significance
rs203587017620:17,600,337C/T—uncertain significance
rs77371420320:17,600,360G/A—uncertain significance
rs13827922720:17,600,950C/T—likely benign
rs11449863520:17,600,992G/A—likely benign
rs14745191220:17,601,011C/T—uncertain significance
rs102167237520:17,601,383C/T—uncertain significance
rs143580253320:17,601,410C/T—uncertain significance
rs78085700020:17,601,422C/T—uncertain significance
rs734464720:17,602,103C/T—benign
rs77029511520:17,602,120T/C—uncertain significance
rs78110381620:17,602,336G/A—likely benign
rs20154427220:17,602,348G/A—uncertain significance
rs6173341320:17,602,364G/A—benign
rs37614156720:17,602,375G/A—uncertain significance
rs76364278220:17,602,378G/A—uncertain significance
rs19959958620:17,602,409C/T—uncertain significance
rs125078073520:17,602,516G/C—uncertain significance
rs37687174520:17,602,570C/T—uncertain significance
rs56563321020:17,602,585G/A—uncertain significance
rs251473750920:17,605,255C/A—uncertain significance
rs76976814120:17,605,307G/A—uncertain significance
rs20169043020:17,606,158T/C—uncertain significance
rs77124433520:17,606,159T/A—uncertain significance
rs36848622120:17,606,180C/G—uncertain significance
rs15024250120:17,606,183C/T—uncertain significance
rs14548395220:17,606,220C/T—benign
rs37031908220:17,606,221G/C—likely benign
rs37213705520:17,606,242T/C—uncertain significance
rs130381026220:17,606,246G/A—uncertain significance
rs14752760420:17,607,994G/A—uncertain significance
rs11449438020:17,608,139G/A—benign
rs75523609220:17,608,154C/T—uncertain significance
rs14874193520:17,608,161G/C—likely benign
rs76809632920:17,608,168C/T—uncertain significance
rs55036188920:17,608,171G/A—uncertain significance
rs20153441320:17,608,277C/T—uncertain significance
rs77724980820:17,608,301C/T—uncertain significance
rs129095966720:17,608,315T/C—uncertain significance
rs14884598920:17,610,470G/C—uncertain significance
rs4547960220:17,610,512C/T—conflicting classifications of pathogenicity
rs121307044120:17,610,522C/T—uncertain significance
rs212230446120:17,610,599T/C—uncertain significance
rs13853963120:17,610,604C/T—likely benign
rs36794574520:17,614,251C/T—uncertain significance
rs77299044420:17,616,278C/T—uncertain significance
rs77633531120:17,616,283C/G—uncertain significance
rs13798154220:17,617,260G/Amissense variant—
rs19989581320:17,617,287C/T—uncertain significance
rs603487220:17,617,342G/C—likely benign
rs37237470920:17,622,446T/A—uncertain significance
rs3453763520:17,622,495T/C—benign
rs11416562320:17,622,562G/A—benign
rs75545111420:17,623,634G/A—uncertain significance
rs140164234320:17,623,689C/G—uncertain significance
rs18291920420:17,623,692C/T—uncertain significance
rs14492323020:17,623,695C/T—uncertain significance
rs251477672220:17,623,716C/T—uncertain significance
rs14708646420:17,623,729C/T—likely benign
rs77108776820:17,623,758C/T—uncertain significance
rs37030688920:17,623,768G/A—likely benign
rs14337827420:17,623,770G/A—likely benign
rs54590053320:17,630,264G/C——
rs14830248220:17,639,276T/C—uncertain significance
rs156878181420:17,639,908G/A—likely benign
rs1248127220:17,639,923T/C—likely benign
rs1303688620:17,639,941A/C—likely benign
rs20104878520:17,640,013T/C—likely benign
rs19962720520:17,640,037A/G—likely benign
rs11137530620:17,640,112A/G—likely benign
rs14260353320:17,640,659G/A—uncertain significance
rs146027593320:17,640,698G/A—uncertain significance
rs54290367420:17,640,729T/C—uncertain significance
rs37401077920:17,640,756C/A—uncertain significance
rs3475563220:17,640,801C/T—benign
rs76942163820:17,640,854A/G—uncertain significance
rs75513588620:17,640,881T/C—uncertain significance
rs251480783820:17,640,908T/C—uncertain significance
rs116272607720:17,640,984C/T—uncertain significance
rs20201428720:17,641,016C/T—uncertain significance
rs608077220:17,651,168T/Aintron variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.