OBSCN

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

Summary

The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Known Variants3,632 total

rsidPosition (GRCh37)AllelesClassClinVar
rs118045081:228,399,482C/G—benign
rs25282673421:228,399,505C/A—uncertain significance
rs25282678991:228,399,518T/G—uncertain significance
rs1918377101:228,399,519T/A—conflicting classifications of pathogenicity
rs25282680411:228,399,525C/A—uncertain significance
rs8929277031:228,399,527C/G—uncertain significance
rs7640035461:228,399,550G/C—likely benign
rs2006967871:228,399,551G/A—likely benign
rs13819067911:228,399,568C/G—likely benign
rs25282692411:228,399,571C/T—likely benign
rs20376874061:228,399,587G/C—uncertain significance
rs14846737711:228,399,593C/G—uncertain significance
rs12530723531:228,399,598G/A—likely benign
rs3717836341:228,399,614G/A—uncertain significance
rs3753112141:228,399,619G/C—likely benign
rs1143757171:228,399,628G/A—likely benign
rs9336782571:228,399,631G/T—likely benign
rs9752213781:228,399,636C/T—uncertain significance
rs14388279271:228,399,637G/A—likely benign
rs7642808941:228,399,641G/T—uncertain significance
rs13052866701:228,399,643C/T—likely benign
rs7675134031:228,399,654G/T—uncertain significance
rs7660166631:228,399,669G/A—uncertain significance
rs1174841361:228,399,671G/A—benign
rs13622045441:228,399,681G/T—uncertain significance
rs3756854011:228,399,691C/A—likely benign
rs3694226291:228,399,695G/T—uncertain significance
rs25282725141:228,399,703G/A—likely benign
rs20377030631:228,399,708G/A—uncertain significance
rs13545047611:228,399,757C/G—likely benign
rs13151525141:228,399,761G/C—uncertain significance
rs559719851:228,399,766T/C—benign
rs5389934561:228,399,784C/T—likely benign
rs13920512601:228,399,785G/A—uncertain significance
rs7662120481:228,399,786C/T—uncertain significance
rs13330482991:228,399,787G/A—likely benign
rs13453830941:228,399,788G/C—uncertain significance
rs12847470161:228,399,803G/A—uncertain significance
rs12474869131:228,399,808G/A—likely benign
rs25282754251:228,399,811G/A—likely benign
rs14542530281:228,399,814G/T—likely benign
rs21250849371:228,399,821C/G—uncertain significance
rs13686625391:228,399,839A/G—uncertain significance
rs13354981101:228,399,848C/T—uncertain significance
rs3770068031:228,399,851G/C—uncertain significance
rs7805007361:228,399,854G/A—uncertain significance
rs25282767611:228,399,863G/A—uncertain significance
rs25282768561:228,399,868C/T—likely benign
rs25282770681:228,399,878C/A—uncertain significance
rs14397847891:228,399,894C/G—uncertain significance
rs12875318341:228,399,895G/A—likely benign
rs13356974531:228,399,896A/G—uncertain significance
rs9900476231:228,399,901G/T—likely benign
rs25282780811:228,399,918A/C—uncertain significance
rs11968245661:228,399,922C/T—likely benign
rs11897152341:228,399,936G/A—uncertain significance
rs7661742421:228,399,942C/T—uncertain significance
rs9384424121:228,399,954G/A—uncertain significance
rs14167821451:228,399,956G/A—uncertain significance
rs7592926351:228,399,960G/T—uncertain significance
rs12051489841:228,399,965G/A—uncertain significance
rs20377483211:228,399,971C/G—uncertain significance
rs14868631771:228,399,973C/T—likely benign
rs8860953381:228,399,974G/A—uncertain significance
rs5551467651:228,399,980G/A—likely benign
rs25282794371:228,399,983A/C—uncertain significance
rs10379370381:228,399,985T/A—uncertain significance
rs7625326731:228,399,993G/C—likely benign
rs20377543121:228,400,003G/A—likely benign
rs7636641681:228,400,006G/C—likely benign
rs14363810991:228,400,015C/T—likely benign
rs25282801471:228,400,017A/C—uncertain significance
rs7509935511:228,400,019G/T—uncertain significance
rs14049098851:228,400,036C/G—likely benign
rs25282805631:228,400,037C/A—uncertain significance
rs25282806571:228,400,040G/A—uncertain significance
rs7804041271:228,400,043G/A—uncertain significance
rs12294724101:228,400,045G/C—uncertain significance
rs1412836021:228,400,063C/A—likely benign
rs20377633521:228,400,081A/G—likely benign
rs25282818211:228,400,091T/C—uncertain significance
rs13531092941:228,400,093G/A—likely benign
rs25282820531:228,400,099C/A—likely benign
rs9699634291:228,400,100G/A—uncertain significance
rs7542705311:228,400,114C/T—likely benign
rs13737934471:228,400,121G/A—uncertain significance
rs25282827591:228,400,122G/C—uncertain significance
rs25282828571:228,400,127T/G—uncertain significance
rs25282828831:228,400,128C/A—uncertain significance
rs14028741951:228,400,135C/A—likely benign
rs5639591051:228,400,153G/A—likely benign
rs25282834851:228,400,158G/T—uncertain significance
rs12663265971:228,400,162G/A—likely benign
rs25282835791:228,400,163C/A—uncertain significance
rs9417148171:228,400,169G/T—uncertain significance
rs12415163881:228,400,175C/A—uncertain significance
rs25282840631:228,400,184G/A—uncertain significance
rs12851574211:228,400,185G/T—uncertain significance
rs12934703261:228,400,186C/A—likely benign
rs5465104241:228,400,190C/T—uncertain significance

Showing 100 of 3,632 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.