SPART

spartin

Summary

This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008]

Known Variants306 total

rsidPosition (GRCh37)AllelesClassClinVar
rs187999949313:36,875,785G/T—uncertain significance
rs188001958413:36,876,046A/G—uncertain significance
rs7486898213:36,876,048T/A—uncertain significance
rs3443438913:36,876,159G/A—likely benign
rs56442846013:36,876,203A/G—uncertain significance
rs103860436113:36,876,222A/G—uncertain significance
rs88605013113:36,876,246C/T—uncertain significance
rs56461448513:36,876,298G/A—uncertain significance
rs7812983313:36,876,379A/G—benign
rs92900986513:36,876,431A/G—uncertain significance
rs122530948713:36,876,449G/A—uncertain significance
rs7909599913:36,876,467A/G—uncertain significance
rs53520932913:36,876,479A/T—uncertain significance
rs101138609813:36,876,594T/C—uncertain significance
rs37315210113:36,876,610C/T—uncertain significance
rs55363801213:36,876,654T/G—uncertain significance
rs54041462213:36,876,655C/G—uncertain significance
rs954719013:36,876,703C/T—likely benign
rs88605013213:36,876,708T/C—uncertain significance
rs57560361213:36,876,751T/A—uncertain significance
rs93284323113:36,876,816C/T—uncertain significance
rs53896981213:36,876,857G/A—uncertain significance
rs14904877913:36,876,878G/A—uncertain significance
rs88605013313:36,876,952T/C—uncertain significance
rs56230659313:36,877,046C/T—uncertain significance
rs96775742713:36,877,235G/A—uncertain significance
rs121962171413:36,877,315T/C—uncertain significance
rs55206479013:36,877,337T/G—uncertain significance
rs733602013:36,877,352T/C—uncertain significance
rs88605013413:36,877,488T/C—uncertain significance
rs74815955713:36,877,522A/C—uncertain significance
rs95626732313:36,877,538G/A—uncertain significance
rs733386113:36,877,578G/T—likely benign
rs7721473313:36,877,593T/C—benign
rs105415213:36,877,656C/T—likely benign
rs731798813:36,877,685T/A—likely benign
rs18751783813:36,877,744T/C—uncertain significance
rs88605013513:36,877,768A/G—uncertain significance
rs57448399513:36,877,786C/T—uncertain significance
rs54177596313:36,877,787G/A—uncertain significance
rs56021366213:36,877,858C/T—uncertain significance
rs214804913:36,877,878T/C—benign
rs105414413:36,877,894G/A—likely benign
rs105414113:36,877,978T/C—likely benign
rs105414913:36,878,051C/T—likely benign
rs19051572713:36,878,056A/G—uncertain significance
rs76436556713:36,878,394A/G—uncertain significance
rs74639908713:36,878,502T/A—uncertain significance
rs14136461313:36,878,504A/T—likely benign
rs74880625313:36,878,505T/C—likely benign
rs213725054313:36,878,512T/C—uncertain significance
rs20164497213:36,878,514C/T—likely benign
rs76725894013:36,878,519T/C—uncertain significance
rs250047391213:36,878,521G/A—uncertain significance
rs14080061413:36,878,539G/A—uncertain significance
rs14327496713:36,878,549C/T—uncertain significance
rs14668364213:36,878,564C/T—likely benign
rs75187787913:36,878,565G/A—likely benign
rs213725157313:36,878,573T/C—uncertain significance
rs14035037913:36,878,580T/C—likely benign
rs105031763313:36,878,594C/T—uncertain significance
rs188029673713:36,878,636T/A—uncertain significance
rs250047671913:36,878,640T/C—likely benign
rs57444804313:36,878,666C/T—uncertain significance
rs20011818713:36,878,667C/T—uncertain significance
rs105752011813:36,878,677A/G—uncertain significance
rs75747623313:36,878,680C/T—uncertain significance
rs76778969213:36,878,687T/C—uncertain significance
rs56014943013:36,878,700G/A—likely benign
rs159411057613:36,878,706T/A—likely benign
rs15016377013:36,878,708C/T—uncertain significance
rs126313029813:36,878,715A/G—likely benign
rs77845426713:36,878,716T/C—uncertain significance
rs20111087913:36,878,721C/T—likely benign
rs213725371813:36,878,732C/A—uncertain significance
rs37384198713:36,878,733C/T—likely benign
rs19270407513:36,878,734G/A—conflicting classifications of pathogenicity
rs13908565313:36,878,758T/A—uncertain significance
rs76195403113:36,878,763T/G—likely benign
rs78016331213:36,878,766G/A—likely benign
rs14515387613:36,878,927G/A—likely benign
rs53628512713:36,886,118G/A—likely benign
rs3591486113:36,886,170C/G—benign
rs11463911113:36,886,215T/C—benign
rs213731297613:36,886,265A/G—likely benign
rs188118180413:36,886,267T/A—likely benign
rs76561400113:36,886,288C/T—uncertain significance
rs159322395213:36,886,290G/A—likely benign
rs37010245313:36,886,318T/C—uncertain significance
rs20103035213:36,886,326G/A—likely benign
rs250053578013:36,886,329G/A—likely benign
rs20211828613:36,886,360A/C—uncertain significance
rs77982816113:36,886,361C/G—uncertain significance
rs77203430813:36,886,363G/A—uncertain significance
rs77328692713:36,886,366G/A—uncertain significance
rs116820463213:36,886,372C/T—uncertain significance
rs77110172313:36,886,374T/C—likely pathogenic
rs144863897013:36,886,391A/C—likely benign
rs213731513513:36,886,439T/G—likely benign
rs250053741313:36,886,443G/C—likely benign

Showing 100 of 306 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.