SPAST

spastin

Summary

This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The use of alternative translational initiation sites in this gene results in a single transcript variant that can produce isoforms that differ in the length of their N-terminus and which thereby differ in the efficiency of their export from the nucleus to the cytoplasm. In addition, alternative splicing results in multiple transcript variants that encode isoforms that differ in other protein regions as well. One isoform of this gene has been shown to be a microtubule-severing enzyme that regulates microtubule abundance, mobility, and plus-end distribution. Mutations in this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, May 2018]

Known Variants776 total

rsidPosition (GRCh37)AllelesClassClinVar
rs129948692:32,288,478C/A—benign
rs1829650722:32,288,549G/C—likely benign
rs8860559572:32,288,681G/T—uncertain significance
rs8860559582:32,288,725C/T—uncertain significance
rs8860559592:32,288,733G/A—uncertain significance
rs13807047362:32,288,811C/A—uncertain significance
rs3743272952:32,288,860C/T—likely benign
rs3761654432:32,288,894G/A—uncertain significance
rs14049320722:32,288,897G/A—uncertain significance
rs24656792562:32,288,901A/G—uncertain significance
rs16763830792:32,288,903G/C—uncertain significance
rs9373190462:32,288,910C/G—uncertain significance
rs7512253412:32,288,911C/G—uncertain significance
rs7592363712:32,288,912G/T—likely benign
rs24656793692:32,288,916G/T—pathogenic
rs7575186552:32,288,917G/A—uncertain significance
rs7794495732:32,288,919C/A—conflicting classifications of pathogenicity
rs7509009312:32,288,920G/C—uncertain significance
rs14775060132:32,288,923G/A—uncertain significance
rs5387722432:32,288,924G/A—likely benign
rs24656794562:32,288,926A/G—uncertain significance
rs14454101822:32,288,927G/A—likely benign
rs21486850902:32,288,929A/G—uncertain significance
rs7689286142:32,288,930G/A—conflicting classifications of pathogenicity
rs24656794982:32,288,934G/A—uncertain significance
rs7812224982:32,288,937T/A—conflicting classifications of pathogenicity
rs7696803702:32,288,939C/T—likely benign
rs24656795912:32,288,940G/A—uncertain significance
rs13030744962:32,288,951C/G—likely benign
rs3723499422:32,288,955C/G—likely pathogenic
rs7672257652:32,288,957G/C—likely benign
rs7522729872:32,288,960G/T—likely benign
rs7622094692:32,288,964C/G—likely benign
rs24656798912:32,288,967A/G—uncertain significance
rs5588823172:32,288,968G/A—likely benign
rs24656799332:32,288,970C/T—uncertain significance
rs7589205362:32,288,973C/T—uncertain significance
rs9262677762:32,288,975G/A—likely benign
rs5721097432:32,288,978C/T—likely benign
rs13614935502:32,288,980C/T—uncertain significance
rs16763904842:32,288,983G/C—uncertain significance
rs13735118762:32,288,987G/A—likely benign
rs7815162352:32,288,989C/T—likely benign
rs2008375662:32,288,996C/G—likely benign
rs14034809592:32,288,997C/G—conflicting classifications of pathogenicity
rs7777212322:32,288,998C/T—uncertain significance
rs15730271242:32,288,999T/A—likely benign
rs7490217262:32,289,000C/A—likely benign
rs7710195192:32,289,001C/T—uncertain significance
rs7714556572:32,289,009G/T—uncertain significance
rs10416622612:32,289,013C/G—uncertain significance
rs11762148352:32,289,016C/A—uncertain significance
rs7603085002:32,289,017C/G—likely benign
rs11832438102:32,289,019C/T—likely benign
rs9117697752:32,289,023G/T—likely benign
rs3678435982:32,289,024C/G—uncertain significance
rs7551516582:32,289,026C/G—likely benign
rs5736429492:32,289,027G/Cmissense variantuncertain significance
rs5427935792:32,289,029G/C—conflicting classifications of pathogenicity
rs1219085152:32,289,031C/Tmissense variantrisk factor
rs13598317872:32,289,032G/T—likely benign
rs1219085172:32,289,034C/Amissense variantpathogenic
rs7571001972:32,289,035G/A—likely benign
rs7789523342:32,289,037A/G—conflicting classifications of pathogenicity
rs10495861832:32,289,038T/G—uncertain significance
rs15533944752:32,289,039A/T—pathogenic
rs14433557842:32,289,042C/T—uncertain significance
rs11686736062:32,289,049T/C—uncertain significance
rs13564869292:32,289,052A/G—uncertain significance
rs14626280952:32,289,053C/G—pathogenic
rs15533944972:32,289,056T/G—pathogenic
rs2000299382:32,289,057T/C—uncertain significance
rs5474637932:32,289,061C/G—uncertain significance
rs24656810192:32,289,064A/C—uncertain significance
rs3689514982:32,289,065C/A—pathogenic
rs16763995092:32,289,067C/T—uncertain significance
rs7528528172:32,289,068G/A—likely benign
rs10575231872:32,289,071G/C—likely benign
rs1455711712:32,289,074T/C—likely benign
rs15586057582:32,289,079G/A—conflicting classifications of pathogenicity
rs24656812272:32,289,083C/G—uncertain significance
rs16764005082:32,289,089G/C—likely benign
rs7571459182:32,289,094G/A—uncertain significance
rs21486855102:32,289,098G/C—uncertain significance
rs11851449482:32,289,107C/T—likely benign
rs14220241472:32,289,108C/A—uncertain significance
rs2020033762:32,289,109A/T—uncertain significance
rs21486855402:32,289,111C/T—likely benign
rs7465453172:32,289,119C/T—likely benign
rs3723324992:32,289,122C/T—likely benign
rs9716728532:32,289,125C/A—likely benign
rs5503147872:32,289,126G/T—uncertain significance
rs15586058682:32,289,132C/G—uncertain significance
rs12189049262:32,289,134C/G—likely benign
rs24656815732:32,289,137C/A—pathogenic
rs16764030992:32,289,138C/T—pathogenic
rs1469567622:32,289,143C/G—likely benign
rs15586058952:32,289,144T/C—uncertain significance
rs7761148232:32,289,150C/T—uncertain significance
rs7654346502:32,289,169A/G—uncertain significance

Showing 100 of 776 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.