AP3D1

adaptor related protein complex 3 subunit delta 1

Summary

The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017]

Known Variants1,043 total

rsidPosition (GRCh37)AllelesClassClinVar
rs74972673019:2,102,180T/C—uncertain significance
rs20111337119:2,102,183C/T—uncertain significance
rs75993757719:2,102,186G/A—likely benign
rs77258173119:2,102,187C/T—likely benign
rs77603662719:2,102,188G/A—uncertain significance
rs76488335419:2,102,191G/A—uncertain significance
rs251210250919:2,102,193C/T—likely benign
rs19967549819:2,102,198T/C—uncertain significance
rs128039915519:2,102,199C/T—likely benign
rs251210254819:2,102,204C/T—uncertain significance
rs36918360619:2,102,205T/C—likely benign
rs75272863919:2,102,215C/G—uncertain significance
rs20188085919:2,102,223C/T—likely benign
rs20072734219:2,102,224G/A—uncertain significance
rs18578744519:2,102,244G/A—likely benign
rs75774407419:2,102,246C/T—uncertain significance
rs37547163219:2,102,247G/A—likely benign
rs77600792519:2,102,257G/C—uncertain significance
rs123824957219:2,102,276G/C—likely benign
rs251210277319:2,102,279A/G—likely benign
rs37767770319:2,102,286T/C—likely benign
rs11185620619:2,102,510C/G—benign
rs14149480519:2,102,543G/C—benign
rs77049895519:2,108,677G/A—likely benign
rs135049650819:2,108,698G/A—likely benign
rs251212155919:2,108,702C/T—uncertain significance
rs145762258619:2,108,704G/A—likely benign
rs129193757019:2,108,706C/T—uncertain significance
rs251212164219:2,108,713G/T—likely benign
rs201817946619:2,108,715C/G—uncertain significance
rs127453435219:2,108,717T/C—uncertain significance
rs76071022419:2,108,727G/A—uncertain significance
rs75397211719:2,108,731G/A—likely benign
rs119480941419:2,108,734C/A—uncertain significance
rs55353648019:2,108,740G/A—likely benign
rs37548736219:2,108,743G/A—likely benign
rs201818080519:2,108,745A/C—uncertain significance
rs251212185419:2,108,748A/G—uncertain significance
rs13796064519:2,108,752C/T—likely benign
rs54527365719:2,108,756C/T—uncertain significance
rs77239560019:2,108,764A/G—likely benign
rs37186782019:2,108,774G/A—likely benign
rs77846717519:2,108,777C/T—likely benign
rs74550881019:2,108,778G/A—likely benign
rs5612347319:2,108,929C/A—benign
rs207230619:2,109,019T/C—benign
rs124707211919:2,109,065C/T—likely benign
rs77675155819:2,109,067G/C—likely benign
rs5615033419:2,109,071C/T—benign
rs116936589919:2,109,074A/G—likely benign
rs54932318019:2,109,078T/G—likely benign
rs76287848919:2,109,085C/G—uncertain significance
rs77454740519:2,109,086G/A—conflicting classifications of pathogenicity
rs75993019919:2,109,095G/A—likely benign
rs134165413819:2,109,101A/G—likely benign
rs251212366519:2,109,107G/C—uncertain significance
rs75294933419:2,109,113C/T—likely benign
rs75665183419:2,109,114G/A—uncertain significance
rs128653403119:2,109,116C/G—likely benign
rs74997265519:2,109,121G/A—uncertain significance
rs14310545219:2,109,122A/T—conflicting classifications of pathogenicity
rs77989237719:2,109,127G/C—uncertain significance
rs74665479719:2,109,138C/T—uncertain significance
rs74782902619:2,109,148C/T—uncertain significance
rs36984448519:2,109,149G/A—likely benign
rs53504210119:2,109,153T/G—uncertain significance
rs98139170819:2,109,155G/C—uncertain significance
rs2567319:2,109,157T/Gmissense variantuncertain significance
rs127679398219:2,109,170C/G—uncertain significance
rs36920387219:2,109,171A/G—uncertain significance
rs77595656619:2,109,173G/C—uncertain significance
rs251212415219:2,109,190A/G—likely benign
rs128386729819:2,109,194A/T—likely benign
rs214500762919:2,109,201G/C—uncertain significance
rs76471150119:2,109,202C/T—uncertain significance
rs75501423619:2,109,203G/A—likely benign
rs251212423519:2,109,210T/C—likely benign
rs37661925819:2,109,220A/G—likely benign
rs7796207719:2,109,480G/A—benign
rs11170740419:2,109,596T/C—benign
rs1760492419:2,109,667C/T—benign
rs7916284919:2,109,812G/C—benign
rs75828619:2,109,834G/A—benign
rs37730528619:2,109,856T/A—likely benign
rs251212728719:2,109,858G/A—likely benign
rs74599742619:2,109,860C/T—likely benign
rs78039048819:2,109,876A/G—uncertain significance
rs251212738719:2,109,881G/C—uncertain significance
rs74718393119:2,109,885T/C—uncertain significance
rs76222682919:2,109,908C/A—uncertain significance
rs129321543919:2,109,913G/A—likely benign
rs119995267119:2,109,918G/A—likely benign
rs125836591319:2,109,930G/C—uncertain significance
rs145706060419:2,109,932T/G—uncertain significance
rs77382936219:2,109,937G/A—likely benign
rs75219763019:2,109,943C/T—likely benign
rs37061243319:2,109,944G/A—uncertain significance
rs76376431419:2,109,951C/T—uncertain significance
rs37472550719:2,109,952G/A—likely benign
rs75035607419:2,109,961C/T—uncertain significance

Showing 100 of 1,043 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.