KIF13A

kinesin family member 13A

Summary

This gene encodes a member of the kinesin family of microtubule-based motor proteins that function in the positioning of endosomes. This family member can direct mannose-6-phosphate receptor-containing vesicles from the trans-Golgi network to the plasma membrane, and it is necessary for the steady-state distribution of late endosomes/lysosomes. It is also required for the translocation of FYVE-CENT and TTC19 from the centrosome to the midbody during cytokinesis, and it plays a role in melanosome maturation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Known Variants89 total

rsidPosition (GRCh37)AllelesClassClinVar
rs25323292286:17,764,384A/G—uncertain significance
rs7466798336:17,764,400A/C—uncertain significance
rs10456002666:17,764,420G/A—uncertain significance
rs25323295076:17,764,438G/A—uncertain significance
rs2003857516:17,764,488C/G—uncertain significance
rs7455333736:17,764,508T/C—uncertain significance
rs7668632846:17,764,577T/C—uncertain significance
rs1997059066:17,764,579G/A—uncertain significance
rs7807423336:17,764,594G/T—uncertain significance
rs3740138596:17,764,786C/G—uncertain significance
rs412677106:17,764,793C/T—likely benign
rs13297800946:17,764,810T/G—uncertain significance
rs563271126:17,764,878C/T—likely benign
rs412677126:17,764,896G/C—benign
rs7803598486:17,764,966C/T—uncertain significance
rs1846866556:17,764,996C/T—uncertain significance
rs3708684466:17,765,102C/G—uncertain significance
rs7792805946:17,765,137C/T—uncertain significance
rs7723950576:17,765,171C/T—uncertain significance
rs7761779716:17,771,388C/T—uncertain significance
rs14209998886:17,771,389T/C—uncertain significance
rs12794848946:17,771,433T/C—uncertain significance
rs25323715586:17,772,219A/C—uncertain significance
rs7562553026:17,777,548C/T—uncertain significance
rs7804928916:17,777,549G/A—uncertain significance
rs7469803286:17,779,833T/C—uncertain significance
rs25324168566:17,779,851G/A—uncertain significance
rs2000094766:17,781,080C/T—uncertain significance
rs342964716:17,781,428T/C—uncertain significance
rs3727135056:17,781,514T/C—uncertain significance
rs11966866106:17,783,886C/T—uncertain significance
rs5704381106:17,783,904T/C—uncertain significance
rs12829417176:17,785,850C/A—uncertain significance
rs7486768406:17,785,852C/T—uncertain significance
rs25324525936:17,785,870T/C—uncertain significance
rs7655821876:17,788,009G/A—uncertain significance
rs1921339636:17,788,088C/G—benign
rs7691711686:17,794,544G/A—uncertain significance
rs3732622066:17,794,601G/A—uncertain significance
rs2017934126:17,794,837T/C—uncertain significance
rs733711256:17,794,863A/G—benign
rs7494213706:17,794,905C/T—uncertain significance
rs7685642516:17,794,921G/A—uncertain significance
rs12644273186:17,796,913T/A—uncertain significance
rs11915961846:17,797,002C/T—uncertain significance
rs2010260566:17,799,550G/A—uncertain significance
rs5329775296:17,799,582G/A—uncertain significance
rs2022316726:17,799,592A/T—uncertain significance
rs7788367216:17,800,215T/C—likely benign
rs2020267546:17,800,221C/T—uncertain significance
rs2015272706:17,800,230C/T—uncertain significance
rs14486567296:17,800,256C/A—uncertain significance
rs7798130086:17,800,271G/A—uncertain significance
rs4833527066:17,800,288A/G—uncertain significance
rs7786406256:17,800,289C/T—uncertain significance
rs3734495486:17,804,608A/G—uncertain significance
rs3707246846:17,804,730G/A—likely benign
rs7553004886:17,805,738G/A—uncertain significance
rs25325714326:17,805,796C/A—uncertain significance
rs25325716936:17,805,845C/G—uncertain significance
rs3705165676:17,809,098C/A—uncertain significance
rs7475904046:17,809,126C/T—uncertain significance
rs12820882276:17,809,133T/C—uncertain significance
rs104568096:17,813,825C/Tintron variant—
rs17640104416:17,817,255C/T—uncertain significance
rs7687443866:17,817,284G/A—uncertain significance
rs7511585306:17,817,324T/G—uncertain significance
rs17640274206:17,817,442C/G—uncertain significance
rs14834763386:17,826,046T/C—uncertain significance
rs13919365316:17,826,067G/A—uncertain significance
rs798840926:17,826,108C/T—benign
rs356359476:17,826,315G/T—uncertain significance
rs25327081026:17,828,589C/T—uncertain significance
rs25327240726:17,831,345A/G—uncertain significance
rs25327241286:17,831,352G/T—uncertain significance
rs1466146876:17,831,401A/T—uncertain significance
rs3766464746:17,837,161C/T—uncertain significance
rs1401916486:17,837,315A/G—benign
rs1997770946:17,850,546T/C—likely benign
rs1403371566:17,850,576G/A—benign
rs1454114886:17,850,647C/T—benign
rs2000987416:17,852,221C/A—uncertain significance
rs7781328806:17,855,765T/A—uncertain significance
rs1998833896:17,873,622G/C—uncertain significance
rs5623457106:17,886,517C/T——
rs7649358416:17,987,297T/C—uncertain significance
rs17816368326:17,987,355A/C—uncertain significance
rs17816739886:17,987,649T/G—uncertain significance
rs7748305256:17,987,652T/G—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.