RAPSN

receptor associated protein of the synapse

Summary

This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this gene may play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011]

Known Variants532 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88604838411:47,459,310T/C—uncertain significance
rs54242470411:47,459,315C/T—uncertain significance
rs7345975111:47,459,319G/T—likely benign
rs88604838511:47,459,446C/G—uncertain significance
rs4561714411:47,459,469G/A—benign
rs88604838611:47,459,510C/T—uncertain significance
rs249608017311:47,459,529T/C—likely benign
rs127283895911:47,459,544C/T—uncertain significance
rs14628597111:47,459,547G/A—likely benign
rs148615958011:47,459,549A/T—uncertain significance
rs207632646311:47,459,553G/A—conflicting classifications of pathogenicity
rs75094140811:47,459,555G/A—uncertain significance
rs142538049911:47,459,557C/T—uncertain significance
rs116517441611:47,459,558G/A—uncertain significance
rs75721561211:47,459,562G/A—conflicting classifications of pathogenicity
rs101318385411:47,459,571G/A—likely benign
rs13939836711:47,459,575C/T—conflicting classifications of pathogenicity
rs20179629411:47,459,576G/A—likely benign
rs128744638911:47,459,580C/T—likely benign
rs76888226711:47,459,582C/T—uncertain significance
rs53089658011:47,459,583G/A—likely benign
rs37012313811:47,459,584T/C—uncertain significance
rs76253222011:47,459,585T/G—uncertain significance
rs135379987511:47,459,589C/T—likely benign
rs249608082311:47,459,591G/A—likely pathogenic
rs86743989211:47,459,594G/A—likely benign
rs215330628111:47,459,595G/A—likely benign
rs207632767011:47,459,606G/A—likely benign
rs249608099111:47,459,607G/A—likely benign
rs249608100411:47,459,610A/G—likely benign
rs77034776811:47,459,615C/T—likely benign
rs95478557711:47,459,618T/C—likely benign
rs20136709311:47,459,634G/T—likely benign
rs1228278311:47,460,005T/C—benign
rs1076926711:47,460,098C/T—benign
rs119353143311:47,460,264C/T—likely benign
rs53678841111:47,460,265C/T—likely benign
rs37489599911:47,460,266C/T—likely benign
rs37758026811:47,460,267C/T—likely benign
rs55659556211:47,460,268C/G—likely benign
rs77437275311:47,460,269C/G—likely benign
rs74572098511:47,460,270C/G—likely benign
rs249608460111:47,460,273G/A—likely benign
rs139526956211:47,460,276C/A—likely benign
rs74856150311:47,460,281A/C—pathogenic
rs132513350211:47,460,282C/G—pathogenic
rs215330667911:47,460,284T/G—uncertain significance
rs86602268511:47,460,285G/A—likely benign
rs136870253911:47,460,294G/A—likely benign
rs143256424311:47,460,297G/T—uncertain significance
rs76548165711:47,460,300G/A—likely benign
rs119789585511:47,460,301G/C—uncertain significance
rs207633530611:47,460,303G/T—pathogenic
rs712621011:47,460,306G/A—benign
rs121240396311:47,460,309T/G—likely benign
rs133490032411:47,460,311G/A—likely benign
rs121260175611:47,460,312G/A—likely benign
rs207633558111:47,460,318C/T—likely benign
rs119428714011:47,460,321C/T—likely benign
rs124192845011:47,460,322C/T—uncertain significance
rs14550707511:47,460,323G/A—uncertain significance
rs104820051611:47,460,330C/T—likely benign
rs215330675111:47,460,333C/T—likely benign
rs76805994211:47,460,334T/C—uncertain significance
rs139213768411:47,460,335C/T—uncertain significance
rs15050333311:47,460,336G/A—uncertain significance
rs75651996211:47,460,347C/T—uncertain significance
rs36910434611:47,460,350C/T—uncertain significance
rs13952585111:47,460,351G/A—likely benign
rs77822800211:47,460,357G/A—likely benign
rs37286559911:47,460,359C/T—uncertain significance
rs15093453211:47,460,360G/A—likely benign
rs76301840711:47,460,363G/A—likely benign
rs123166953611:47,460,368G/C—uncertain significance
rs56532191811:47,460,372C/T—likely benign
rs76839414011:47,460,373G/A—uncertain significance
rs125842004511:47,460,375C/T—likely benign
rs249608596011:47,460,378C/T—likely benign
rs159589656711:47,460,380C/G—uncertain significance
rs57014066311:47,460,383C/T—uncertain significance
rs76309496611:47,460,384G/T—pathogenic
rs37364835811:47,460,387C/G—uncertain significance
rs54472222611:47,460,390G/A—likely benign
rs75319699311:47,460,399C/T—likely benign
rs249608621311:47,460,402A/G—likely benign
rs76998968711:47,460,404C/T—uncertain significance
rs101413728011:47,460,405G/A—likely benign
rs14968334511:47,460,408C/T—conflicting classifications of pathogenicity
rs125299247811:47,460,409G/C—uncertain significance
rs76448297411:47,460,411C/T—likely benign
rs75355114711:47,460,412C/G—uncertain significance
rs52911728111:47,460,413G/A—uncertain significance
rs77862297511:47,460,416G/A—likely benign
rs74993911911:47,460,419C/T—uncertain significance
rs75790227211:47,460,421C/T—uncertain significance
rs77987916711:47,460,424T/C—uncertain significance
rs86615443211:47,460,429C/T—likely benign
rs74691127611:47,460,432T/C—likely benign
rs76844522011:47,460,439C/T—uncertain significance
rs54923202611:47,460,440G/A—uncertain significance

Showing 100 of 532 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.