AP5B1

adaptor related protein complex 5 subunit beta 1

Summary

Involved in endosomal transport. Located in lysosomal membrane. Part of AP-type membrane coat adaptor complex. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants57 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37543648511:65,545,364G/Alikely benign
rs102656165611:65,545,370G/Auncertain significance
rs20014263811:65,545,377C/Tuncertain significance
rs77568796211:65,545,395G/Auncertain significance
rs75120846211:65,545,457G/Auncertain significance
rs75487198711:65,545,461G/Auncertain significance
rs36889378311:65,545,574C/Tuncertain significance
rs76728260111:65,545,622A/Cuncertain significance
rs76780386611:65,545,772C/Tuncertain significance
rs57375310311:65,545,800G/Auncertain significance
rs75254213911:65,545,839C/Guncertain significance
rs75686289011:65,545,866C/Tuncertain significance
rs155502330611:65,545,875A/Guncertain significance
rs52729755811:65,545,899G/Cuncertain significance
rs86739841911:65,545,971G/Auncertain significance
rs37508995511:65,546,106C/Guncertain significance
rs14652170911:65,546,126C/Tuncertain significance
rs185779978211:65,546,157G/Cuncertain significance
rs37591461911:65,546,173C/Guncertain significance
rs77470671611:65,546,261G/Auncertain significance
rs37331768711:65,546,275C/Tlikely benign
rs20213438911:65,546,372G/Auncertain significance
rs76567170411:65,546,411G/Auncertain significance
rs37441562411:65,546,415C/Tuncertain significance
rs75170397111:65,546,428G/Cuncertain significance
rs77895446011:65,546,446G/Alikely benign
rs75186695411:65,546,475G/Auncertain significance
rs53183393611:65,546,589G/Cuncertain significance
rs75677136811:65,546,609G/Auncertain significance
rs78075191611:65,546,613G/Auncertain significance
rs55151448411:65,546,652G/Cuncertain significance
rs76704394911:65,546,676C/Tuncertain significance
rs145080223111:65,546,721G/Auncertain significance
rs249538115811:65,546,753C/Tuncertain significance
rs20104115811:65,546,763G/Auncertain significance
rs7145578511:65,546,769G/Auncertain significance
rs90005089811:65,546,817G/Auncertain significance
rs185781402911:65,546,893G/Tuncertain significance
rs56324104511:65,546,913G/Auncertain significance
rs75824623311:65,546,929C/Alikely benign
rs77906343511:65,546,982G/Cuncertain significance
rs75021236711:65,547,137T/Cuncertain significance
rs54105533611:65,547,209C/Guncertain significance
rs115774620211:65,547,237G/Auncertain significance
rs78049641411:65,547,311G/Tuncertain significance
rs145537338311:65,547,389G/Auncertain significance
rs249538378811:65,547,407C/Tuncertain significance
rs249538443511:65,547,531G/Auncertain significance
rs53252847211:65,547,540C/Guncertain significance
rs19314115211:65,547,607C/Tlikely benign
rs185783188011:65,547,671A/Tuncertain significance
rs249538514111:65,547,699G/Auncertain significance
rs136630398511:65,547,704G/Auncertain significance
rs75912384411:65,547,758G/Auncertain significance
rs126474892911:65,547,779G/Auncertain significance
rs76474051011:65,547,783G/Tuncertain significance
rs3569601611:65,549,813G/Cupstream gene variant

Gene information from NCBI Gene. Variant classifications from ClinVar.