CNTNAP1

contactin associated protein 1

Summary

The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009]

Known Variants418 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1294703117:40,834,631C/G—benign
rs91158369217:40,834,857C/T—uncertain significance
rs14459536117:40,834,864T/C—uncertain significance
rs144635634217:40,834,874C/T—likely benign
rs75622173317:40,834,880C/T—likely benign
rs53705910617:40,834,897C/T—uncertain significance
rs254378452117:40,834,914T/C—uncertain significance
rs807534917:40,835,614A/C—benign
rs402863417:40,835,649C/T—benign
rs55869274717:40,835,820G/A—benign
rs254378609817:40,835,835C/T—uncertain significance
rs159780292717:40,835,840C/G—pathogenic
rs74659480817:40,835,841G/C—uncertain significance
rs254378612617:40,835,842G/A—uncertain significance
rs254378612817:40,835,843C/T—likely benign
rs214364445017:40,835,845G/T—likely pathogenic
rs134702610917:40,835,858G/A—likely benign
rs53468494717:40,835,907C/A—uncertain significance
rs227102917:40,835,922A/C—benign
rs105065475117:40,835,936G/C—likely benign
rs75314842717:40,835,951C/T—likely benign
rs75876305017:40,835,952G/T—likely benign
rs36964854417:40,836,048C/G—conflicting classifications of pathogenicity
rs78091796717:40,836,056A/G—uncertain significance
rs205297384217:40,836,061C/A—uncertain significance
rs124554473417:40,836,087C/T—uncertain significance
rs214364527317:40,836,093C/T—uncertain significance
rs101258283017:40,836,100C/A—likely benign
rs136714583317:40,836,124C/T—likely benign
rs74928794017:40,836,125C/A—likely benign
rs254378675217:40,836,130C/T—likely benign
rs75201282017:40,836,193C/G—likely benign
rs90171790317:40,836,196C/T—likely benign
rs76770647817:40,836,197G/T—uncertain significance
rs11555258317:40,836,211C/T—likely benign
rs74883983517:40,836,227T/C—uncertain significance
rs138032088717:40,836,234G/A—uncertain significance
rs20112806317:40,836,258C/A—benign
rs11487155417:40,836,262A/C—benign
rs7282696217:40,836,389C/T—likely benign
rs722382817:40,836,452A/G—benign
rs13950288217:40,836,882G/A—likely benign
rs988937317:40,836,975A/G—benign
rs205298495017:40,836,990C/T—likely benign
rs120668706517:40,836,992C/T—likely benign
rs74680779317:40,837,034C/T—uncertain significance
rs56222142217:40,837,036G/A—uncertain significance
rs90993463117:40,837,050T/C—likely benign
rs76242362317:40,837,053C/G—uncertain significance
rs76678649317:40,837,061T/G—uncertain significance
rs75361652117:40,837,063C/T—uncertain significance
rs254378806217:40,837,071T/C—likely benign
rs140896431317:40,837,072G/A—uncertain significance
rs146623947017:40,837,074G/A—likely benign
rs214364767317:40,837,084C/A—uncertain significance
rs254378810717:40,837,095C/T—likely benign
rs131794802217:40,837,099G/A—uncertain significance
rs254378817517:40,837,122C/G—uncertain significance
rs74956277017:40,837,140C/T—likely benign
rs254378821417:40,837,142A/G—uncertain significance
rs76126425617:40,837,165G/T—likely benign
rs77500817317:40,837,243A/C—uncertain significance
rs144887847917:40,837,277A/G—uncertain significance
rs14455432617:40,837,287G/A—likely benign
rs75591068917:40,837,293G/A—likely benign
rs76619530417:40,837,294G/A—uncertain significance
rs56165960317:40,837,320C/A—uncertain significance
rs254378861817:40,837,323C/T—uncertain significance
rs156796982517:40,837,358T/C—pathogenic
rs36858139317:40,837,389C/T—likely benign
rs119462938117:40,837,392G/A—likely benign
rs77320308417:40,837,398C/T—likely benign
rs146397211717:40,837,428C/T—likely benign
rs77852144317:40,837,446C/T—likely benign
rs56350119317:40,837,447G/A—likely benign
rs139527082817:40,837,449C/G—likely benign
rs19960528217:40,837,450G/T—likely benign
rs37172788017:40,837,454A/G—likely benign
rs78141572517:40,837,458G/A—likely benign
rs36985476417:40,837,959C/T—likely benign
rs90088240117:40,837,964C/T—likely benign
rs75609822517:40,837,982C/G—uncertain significance
rs104989246617:40,838,019G/A—uncertain significance
rs6200191617:40,838,024C/T—likely benign
rs124508874017:40,838,078C/T—likely benign
rs129498705417:40,838,101G/T—uncertain significance
rs123093953417:40,838,136G/C—uncertain significance
rs7496740217:40,838,154A/T—uncertain significance
rs382642617:40,838,403T/A—benign
rs382642717:40,838,404T/A—benign
rs7330374317:40,838,667C/G—likely benign
rs197352317:40,838,753C/G—benign
rs197352217:40,838,829T/C—benign
rs36779531917:40,838,907C/T—likely benign
rs75957640217:40,838,917G/T—likely benign
rs214365298917:40,838,930G/A—uncertain significance
rs76435935217:40,838,947C/G—likely benign
rs74540159417:40,838,969C/A—likely benign
rs37292411817:40,838,971G/T—likely benign
rs254379123817:40,838,975A/G—uncertain significance

Showing 100 of 418 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.