VAMP1

vesicle associated membrane protein 1

Summary

Synapotobrevins, syntaxins, and the synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Mutations in this gene are associated with autosomal dominant spastic ataxia 1. Multiple alternative splice variants have been described, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2014]

Known Variants88 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7158483712:6,572,006G/A—likely benign
rs104545212:6,572,048A/G—benign
rs1296412:6,572,191T/C—benign
rs123267353212:6,573,640G/A—uncertain significance
rs74949264912:6,573,642A/G—likely benign
rs249824284912:6,573,647A/G—uncertain significance
rs213700310812:6,573,652A/G—uncertain significance
rs121315861012:6,573,654T/C—uncertain significance
rs249824292612:6,573,662G/A—likely benign
rs194995464212:6,573,670G/T—uncertain significance
rs145235589212:6,573,671A/C—likely benign
rs253471612:6,573,716T/C—benign
rs7405695712:6,573,717G/A—benign
rs253471712:6,573,749C/T—benign
rs103496912:6,573,856G/T—benign
rs7158483312:6,573,910C/T—benign
rs18112035912:6,574,036G/A—likely benign
rs194996645312:6,574,040C/T—likely benign
rs77929200312:6,574,044A/C—likely benign
rs74602044012:6,574,046C/T—likely benign
rs77179694612:6,574,047G/A—likely benign
rs87885497512:6,574,054A/C—pathogenic
rs249824636012:6,574,058A/C—uncertain significance
rs249824642212:6,574,060A/G—likely benign
rs77607579612:6,574,061A/G—uncertain significance
rs14739764812:6,574,071C/T—uncertain significance
rs76130358912:6,574,072G/A—uncertain significance
rs123743767712:6,574,081A/T—conflicting classifications of pathogenicity
rs146966431612:6,574,085A/G—uncertain significance
rs77285220612:6,574,089C/T—uncertain significance
rs90107578712:6,574,097A/G—uncertain significance
rs11473868012:6,574,105C/G—uncertain significance
rs102237771012:6,574,113G/A—likely benign
rs13790325512:6,574,120G/A—benign
rs75433897412:6,574,123C/T—likely benign
rs249824697812:6,574,127A/C—likely benign
rs101710112:6,574,301G/T—benign
rs133611143612:6,574,992G/A—likely benign
rs14766537412:6,574,993G/A—benign
rs75442860412:6,574,996A/C—likely benign
rs37497168312:6,575,033C/T—uncertain significance
rs76545946112:6,575,038T/C—likely benign
rs207237512:6,575,044G/T—benign
rs155513046512:6,575,066G/T—likely pathogenic
rs213700821612:6,575,074T/C—likely benign
rs74810305812:6,575,093C/T—uncertain significance
rs53653165112:6,575,101C/T—likely benign
rs98528554212:6,575,110C/T—likely benign
rs195001332012:6,575,124T/C—uncertain significance
rs146832640612:6,575,137G/C—uncertain significance
rs159214859412:6,575,146C/G—likely benign
rs75404610412:6,575,150C/G—uncertain significance
rs78101232512:6,575,172G/C—uncertain significance
rs213700847112:6,575,181G/C—likely benign
rs253471812:6,575,191T/A—benign
rs14074029312:6,575,372G/A—likely benign
rs156552713712:6,575,390C/T—likely pathogenic
rs254007427212:6,575,391C/G—uncertain significance
rs155513059712:6,575,398A/T—uncertain significance
rs14508898312:6,575,406C/T—likely benign
rs77426943312:6,575,409G/A—likely benign
rs14756387212:6,575,415C/T—likely benign
rs125677028912:6,575,422C/T—uncertain significance
rs130861672112:6,575,423G/A—pathogenic
rs213700896812:6,575,446G/A—uncertain significance
rs53005220212:6,575,449G/T—uncertain significance
rs195002314712:6,575,462C/T—uncertain significance
rs105638982512:6,575,465C/G—uncertain significance
rs75818548812:6,575,486T/A—uncertain significance
rs37534084012:6,575,494G/C—uncertain significance
rs124293036512:6,575,500G/A—uncertain significance
rs77339649612:6,575,501G/A—uncertain significance
rs195002499412:6,575,503T/G—uncertain significance
rs254007492912:6,575,504G/C—uncertain significance
rs74984668112:6,575,523G/A—conflicting classifications of pathogenicity
rs77455577812:6,575,526A/G—likely benign
rs124022035112:6,575,529C/T—likely benign
rs77569427212:6,575,536A/G—likely benign
rs253472012:6,579,565A/G—benign
rs254008452212:6,579,677C/G—likely benign
rs36773491112:6,579,679C/T—likely benign
rs133241873912:6,579,681C/T—likely benign
rs20040406112:6,579,684G/A—likely benign
rs254008458512:6,579,686G/A—uncertain significance
rs142920517012:6,579,688C/T—likely benign
rs98287426112:6,579,693C/T—uncertain significance
rs207237612:6,579,812T/C—benign
rs1049209612:6,580,582A/Gregulatory region variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.