AAGAB

alpha and gamma adaptin binding protein

Summary

The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

Known Variants78 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1214812115:67,494,922T/C—benign
rs36998874615:67,495,186T/G—uncertain significance
rs76635691615:67,495,190A/G—uncertain significance
rs75324758315:67,495,885C/A—likely pathogenic
rs196361673215:67,495,902T/G—uncertain significance
rs20201660915:67,495,926G/A—uncertain significance
rs77200280115:67,495,948T/C—likely benign
rs250536413315:67,496,389T/A—uncertain significance
rs250536426815:67,496,424C/A—likely pathogenic
rs196363066215:67,496,429T/A—uncertain significance
rs37232504715:67,496,458T/A—benign
rs36869323615:67,496,480A/G—uncertain significance
rs1107194015:67,499,477A/Cintron variant—
rs76944407615:67,500,914A/G—uncertain significance
rs250537486415:67,500,922A/T—uncertain significance
rs3609635515:67,500,933T/C—benign
rs20113363015:67,500,941C/T—conflicting classifications of pathogenicity
rs11785353615:67,500,946C/T—benign
rs19974923015:67,500,948G/A—uncertain significance
rs228926215:67,501,033G/A—benign
rs1695361015:67,501,592C/T—benign
rs2869387215:67,501,782T/C—benign
rs196376018215:67,501,815A/G—likely benign
rs20180867015:67,501,832T/C—uncertain significance
rs132866255715:67,501,863G/T—uncertain significance
rs122710579715:67,501,864C/T—uncertain significance
rs2841888415:67,501,977C/T—benign
rs6651762415:67,502,166A/T—benign
rs6748616515:67,502,583G/T——
rs1695077615:67,510,604G/Cintron variant—
rs18481279115:67,519,251A/T—benign
rs477634715:67,523,885C/T—benign
rs126607174915:67,524,151C/T—uncertain significance
rs75711229215:67,524,180A/T—uncertain significance
rs76487396715:67,524,181T/C—uncertain significance
rs77978268015:67,524,205C/T—uncertain significance
rs74648841215:67,524,206G/Astop gainedpathogenic
rs14380522115:67,524,381C/T—benign
rs105751884615:67,528,316C/A—pathogenic
rs13860124115:67,528,353C/T—conflicting classifications of pathogenicity
rs145098530615:67,528,358T/C—uncertain significance
rs3437698015:67,528,360A/G—benign
rs717382615:67,528,374G/T—benign
rs130386116815:67,528,378C/T—pathogenic
rs20056475715:67,528,398G/Astop gainedpathogenic
rs75099881415:67,528,416T/A—likely benign
rs477690715:67,528,550C/T—benign
rs76359056715:67,528,732T/A—likely benign
rs37192636615:67,528,764C/T—uncertain significance
rs18666247915:67,528,778A/T—likely benign
rs159600636015:67,528,781A/T—uncertain significance
rs196446758915:67,528,793C/T—pathogenic
rs20011646615:67,528,794A/G—uncertain significance
rs7435834315:67,528,935T/C—benign
rs20176165115:67,528,950T/C—likely benign
rs94676052815:67,529,012C/G—uncertain significance
rs55668981915:67,529,020G/C—uncertain significance
rs19961645215:67,529,071T/C—uncertain significance
rs196447880715:67,529,081T/C—uncertain significance
rs214038082615:67,529,092C/T—pathogenic
rs19993364615:67,529,094G/C—benign
rs37310601115:67,529,116T/C—conflicting classifications of pathogenicity
rs19126401515:67,529,118A/G—benign
rs20047725815:67,529,132C/T—conflicting classifications of pathogenicity
rs1290070815:67,535,440T/Cintron variant—
rs11217328715:67,539,032T/C——
rs477635015:67,542,179C/Gupstream gene variant—
rs477690915:67,542,349T/G——
rs13934242415:67,542,876T/Aupstream gene variant—
rs156703756115:67,546,909G/A—pathogenic
rs36819710515:67,546,929G/A—uncertain significance
rs250553485615:67,546,941A/T—uncertain significance
rs77866573615:67,546,957C/G—uncertain significance
rs18079983815:67,546,961A/G—benign
rs36954253715:67,546,966C/T—uncertain significance
rs53930101115:67,546,969T/C—conflicting classifications of pathogenicity
rs11559998515:67,546,979C/T—benign
rs374334715:67,547,301C/A—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.