AP3B2

adaptor related protein complex 3 subunit beta 2

Summary

Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first identified as the target antigen in human paraneoplastic neurologic disorders. The encoded subunit binds clathrin and is phosphorylated by a casein kinase-like protein, which mediates synaptic vesicle coat assembly. Defects in this gene are a cause of early-onset epileptic encephalopathy. [provided by RefSeq, Feb 2017]

Known Variants691 total

rsidPosition (GRCh37)AllelesClassClinVar
rs56279079315:83,328,218T/G—uncertain significance
rs20142873315:83,328,319G/A—uncertain significance
rs18889260015:83,328,325G/T—uncertain significance
rs75634073315:83,328,331A/G—uncertain significance
rs254869167415:83,328,335C/G—uncertain significance
rs53322511815:83,328,345C/A—likely benign
rs77319527315:83,328,351G/C—likely benign
rs36763877415:83,328,354G/A—likely benign
rs254869172615:83,328,364A/G—uncertain significance
rs89936087415:83,328,371C/T—uncertain significance
rs54071593215:83,328,372G/A—likely benign
rs128611813715:83,328,376T/C—uncertain significance
rs76483376515:83,328,378G/T—likely benign
rs254869175815:83,328,387C/T—likely benign
rs76268128915:83,328,388T/C—uncertain significance
rs76442970715:83,328,392C/G—uncertain significance
rs204790131315:83,328,399A/G—likely benign
rs75611221915:83,328,406C/T—uncertain significance
rs3581606515:83,328,407G/A—likely benign
rs139592437315:83,328,409G/A—uncertain significance
rs37689273015:83,328,425G/A—likely benign
rs95964005215:83,328,428C/T—uncertain significance
rs77767800215:83,328,429G/A—likely benign
rs144157315915:83,328,431G/T—uncertain significance
rs132733947715:83,328,437C/T—uncertain significance
rs77087030715:83,328,439C/T—uncertain significance
rs127356026515:83,328,442G/A—uncertain significance
rs147977887715:83,328,443T/C—uncertain significance
rs254869186215:83,328,449T/C—uncertain significance
rs77667029715:83,328,460A/G—uncertain significance
rs254869188115:83,328,463C/G—uncertain significance
rs118354170415:83,328,473A/T—likely benign
rs76912942515:83,328,477G/A—likely benign
rs135738525115:83,328,583T/G—likely benign
rs148254569415:83,328,585G/T—likely benign
rs11305698115:83,328,587G/A—likely benign
rs37541633815:83,328,588G/T—likely benign
rs91446894315:83,328,589C/G—likely benign
rs254869205415:83,328,601A/G—uncertain significance
rs37022422815:83,328,607C/T—uncertain significance
rs14745556915:83,328,609G/T—conflicting classifications of pathogenicity
rs19227347615:83,328,614C/T—likely benign
rs215142528015:83,328,620A/G—likely benign
rs118282741715:83,328,626A/T—likely benign
rs77940189515:83,328,627C/T—conflicting classifications of pathogenicity
rs18433908215:83,328,628G/A—uncertain significance
rs215142530715:83,328,638G/A—likely benign
rs37033567415:83,328,662C/G—likely benign
rs20050509015:83,328,678C/T—uncertain significance
rs36833120115:83,328,679G/A—uncertain significance
rs144887052215:83,328,696A/G—conflicting classifications of pathogenicity
rs75874294715:83,328,702T/C—uncertain significance
rs55420704815:83,328,708G/C—uncertain significance
rs37125207015:83,328,722G/A—likely benign
rs77178228715:83,328,750C/T—likely benign
rs19046206715:83,328,751G/C—uncertain significance
rs97827676915:83,330,557C/A—likely benign
rs204795498215:83,330,560T/G—likely benign
rs215142685615:83,330,562C/T—likely benign
rs37450885415:83,330,569G/C—likely benign
rs76611494415:83,330,578C/T—conflicting classifications of pathogenicity
rs18400778715:83,330,584C/T—likely benign
rs20166725515:83,330,603C/G—uncertain significance
rs37639818415:83,330,605C/T—likely benign
rs204795638715:83,330,607T/C—uncertain significance
rs254869391815:83,330,614A/G—likely benign
rs204795700415:83,330,620C/T—uncertain significance
rs37169392015:83,330,621A/G—uncertain significance
rs55855843415:83,330,625G/A—likely benign
rs37659099215:83,330,633A/G—uncertain significance
rs74634609315:83,330,634C/T—uncertain significance
rs215142694915:83,330,636G/C—uncertain significance
rs77569623515:83,330,646T/G—uncertain significance
rs76408300315:83,330,652C/T—uncertain significance
rs19974943115:83,330,653G/A—likely benign
rs204795793015:83,330,661G/C—uncertain significance
rs57204768615:83,330,663C/T—uncertain significance
rs204795803115:83,330,664G/A—pathogenic
rs93195101515:83,330,665G/T—likely benign
rs89229809615:83,330,666G/A—uncertain significance
rs36973944115:83,330,670G/C—uncertain significance
rs204795830315:83,330,672G/A—uncertain significance
rs141161194415:83,330,680A/T—likely benign
rs37255689815:83,330,684G/A—benign
rs20132446215:83,330,689A/T—likely benign
rs71933415:83,330,904C/T—likely benign
rs36765202115:83,330,905G/A—likely benign
rs76284799315:83,330,911G/A—likely benign
rs204796199215:83,330,912G/A—likely benign
rs254869430715:83,330,926T/G—uncertain significance
rs52794437415:83,330,933T/C—uncertain significance
rs137341057915:83,330,934G/A—likely benign
rs142351556415:83,330,949G/A—likely benign
rs143889189215:83,330,984A/G—uncertain significance
rs20069767515:83,331,007G/T—uncertain significance
rs90770390415:83,331,019G/T—likely benign
rs120760340815:83,331,426C/T—likely benign
rs37504644015:83,331,428A/G—likely benign
rs125443194815:83,331,437C/T—likely benign
rs76115953915:83,331,443C/T—uncertain significance

Showing 100 of 691 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.