RCBTB1

RCC1 and BTB domain containing protein 1

Summary

This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. [provided by RefSeq, Jul 2008]

Known Variants330 total

rsidPosition (GRCh37)AllelesClassClinVar
rs494164413:50,105,705G/Adownstream gene variant—
rs731798213:50,108,252T/C—benign
rs20090219613:50,108,254C/T—benign
rs77748784213:50,108,261G/C—uncertain significance
rs75111516813:50,108,270G/C—likely benign
rs254740755213:50,108,286G/C—uncertain significance
rs213910333513:50,108,300T/A—uncertain significance
rs137575495113:50,108,311G/C—uncertain significance
rs74569483813:50,108,314G/A—uncertain significance
rs20207373613:50,108,316C/G—uncertain significance
rs131612940213:50,108,318A/T—uncertain significance
rs195975477113:50,108,327C/T—uncertain significance
rs76943404413:50,108,329A/C—uncertain significance
rs195975594213:50,108,342C/A—uncertain significance
rs254740766513:50,108,350C/G—uncertain significance
rs94474556713:50,108,356T/A—uncertain significance
rs77226860113:50,108,360A/G—likely benign
rs116050754013:50,108,362G/A—uncertain significance
rs18142788713:50,108,364T/C—benign
rs14153617913:50,108,386A/G—uncertain significance
rs76557260713:50,108,397T/C—uncertain significance
rs76376908213:50,108,408C/G—likely benign
rs195976435413:50,108,412A/G—likely benign
rs7847602913:50,108,480C/G—benign
rs229650213:50,114,981T/A—benign
rs77411066213:50,114,996T/C—likely benign
rs76152821013:50,114,999T/C—likely benign
rs19242003513:50,115,000T/C—benign
rs75607326113:50,115,006A/T—uncertain significance
rs98615284513:50,115,021A/G—likely benign
rs254741502513:50,115,024T/C—uncertain significance
rs37453779013:50,115,025C/G—uncertain significance
rs77864650713:50,115,029C/T—uncertain significance
rs37743848813:50,115,045C/T—likely benign
rs55884197013:50,115,046G/A—uncertain significance
rs254741506513:50,115,051G/A—likely benign
rs143142979213:50,115,056T/C—uncertain significance
rs126902358713:50,115,059C/T—uncertain significance
rs254741511413:50,115,078G/T—likely benign
rs36984804913:50,115,084G/A—likely benign
rs74589069413:50,115,086G/A—uncertain significance
rs121571900513:50,115,098T/G—uncertain significance
rs196031118213:50,115,106C/G—uncertain significance
rs254741517813:50,115,107T/G—likely benign
rs37532277613:50,115,127G/A—uncertain significance
rs196031647213:50,115,143C/T—likely pathogenic
rs20089176713:50,115,146A/G—likely benign
rs133686504813:50,115,152A/G—likely benign
rs75488555713:50,115,157T/C—likely benign
rs254741527213:50,115,158G/A—likely benign
rs153619513:50,115,669C/T—benign
rs140474258713:50,115,796A/C—likely benign
rs7319074913:50,115,797A/G—benign
rs75953353313:50,115,815T/C—uncertain significance
rs76508870913:50,115,818C/T—uncertain significance
rs134789227913:50,115,828C/T—likely benign
rs101559836113:50,115,837G/A—likely benign
rs76276493513:50,115,839C/T—uncertain significance
rs213913447013:50,115,840T/G—likely benign
rs14307038713:50,115,843G/A—likely benign
rs76766767813:50,115,848T/C—uncertain significance
rs75070089913:50,115,849G/A—likely benign
rs75626993713:50,115,865A/C—uncertain significance
rs55294277813:50,115,871C/T—uncertain significance
rs14613808713:50,115,872G/A—uncertain significance
rs14695559613:50,115,874T/A—uncertain significance
rs75554689513:50,115,876C/T—likely benign
rs37495850813:50,115,879T/G—likely benign
rs36886647713:50,115,897G/C—uncertain significance
rs139672903813:50,115,905T/C—uncertain significance
rs74673118513:50,115,913T/G—uncertain significance
rs55666400113:50,115,934G/A—uncertain significance
rs196038668813:50,115,944T/C—uncertain significance
rs14987516213:50,115,945G/A—likely benign
rs197735313:50,116,138A/G—benign
rs138444506413:50,118,860C/A—likely benign
rs131899822113:50,118,861A/G—likely benign
rs86931281913:50,118,872C/T—pathogenic
rs74726750113:50,118,874T/A—uncertain significance
rs87925554713:50,118,881C/Amissense variantpathogenic
rs56265563713:50,118,886C/A—uncertain significance
rs14397007213:50,118,894T/C—uncertain significance
rs254741991613:50,118,899A/G—likely benign
rs37327037613:50,118,905A/G—likely benign
rs120496755513:50,118,914A/G—likely benign
rs77484282113:50,118,916C/G—uncertain significance
rs74930875613:50,118,921C/T—uncertain significance
rs76847558113:50,118,922G/A—pathogenic
rs213914852813:50,118,933T/C—uncertain significance
rs14863265313:50,118,944T/C—likely benign
rs136710093613:50,118,949T/G—uncertain significance
rs196067090413:50,118,954A/G—uncertain significance
rs77703244113:50,118,965C/T—likely benign
rs196067211613:50,118,975G/A—uncertain significance
rs54152533213:50,118,996T/C—uncertain significance
rs4128479213:50,118,998T/C—benign
rs75757394413:50,119,005G/A—likely benign
rs7449470913:50,119,010C/T—benign
rs98454683513:50,121,275A/T—likely benign
rs157088413:50,121,511A/T——

Showing 100 of 330 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.