STX1B

syntaxin 1B

Summary

The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015]

Known Variants295 total

rsidPosition (GRCh37)AllelesClassClinVar
rs13804685816:31,003,871G/A—likely benign
rs19128979816:31,003,968G/A—likely benign
rs7869097016:31,004,133G/C—uncertain significance
rs74908714016:31,004,138G/T—uncertain significance
rs214366056916:31,004,144A/G—uncertain significance
rs214366057716:31,004,145C/T—likely benign
rs77145392216:31,004,147A/G—likely benign
rs77511789416:31,004,148G/T—likely benign
rs76222024316:31,004,154C/T—likely benign
rs141037391016:31,004,155G/A—uncertain significance
rs19988082216:31,004,157C/T—likely benign
rs214366064916:31,004,159C/T—uncertain significance
rs36940126116:31,004,160C/G—likely benign
rs77364959216:31,004,161C/A—uncertain significance
rs214366067216:31,004,162C/G—uncertain significance
rs76342852016:31,004,164A/Tmissense variantuncertain significance
rs159671428816:31,004,168A/G—uncertain significance
rs1785512116:31,004,169T/C—benign
rs15031306916:31,004,172C/T—likely benign
rs205656994816:31,004,176A/G—uncertain significance
rs20202864416:31,004,181C/A—likely benign
rs159671430816:31,004,186C/T—likely pathogenic
rs254395372616:31,004,188A/G—uncertain significance
rs53073724816:31,004,204T/G—uncertain significance
rs254395377916:31,004,210T/C—uncertain significance
rs120182549016:31,004,211C/G—uncertain significance
rs37425690816:31,004,225G/T—uncertain significance
rs77181806516:31,004,237G/A—likely benign
rs76414114516:31,004,435C/T—likely benign
rs37157839316:31,004,436G/A—likely benign
rs214366126916:31,004,442C/G—likely benign
rs20178519316:31,004,444C/T—benign
rs75013452616:31,004,445G/A—likely benign
rs205657228116:31,004,446C/T—uncertain significance
rs37281864216:31,004,450C/T—pathogenic
rs205657230116:31,004,452C/T—uncertain significance
rs105426763216:31,004,454C/T—likely benign
rs77975022916:31,004,455C/T—likely benign
rs254395428516:31,004,456G/A—uncertain significance
rs13827496416:31,004,457G/C—likely benign
rs205657242616:31,004,463G/A—uncertain significance
rs205657244716:31,004,464C/T—uncertain significance
rs205657248116:31,004,469A/T—likely pathogenic
rs214366137616:31,004,471A/G—uncertain significance
rs105752423616:31,004,482T/A—uncertain significance
rs138500808916:31,004,496C/G—likely benign
rs156737669916:31,004,501C/G—not provided
rs124680778516:31,004,503C/T—uncertain significance
rs78084327216:31,004,504G/A—pathogenic
rs74766462016:31,004,511G/A—likely benign
rs214366147916:31,004,521G/A—likely pathogenic
rs155549390616:31,004,522A/G—likely pathogenic
rs156737672416:31,004,524T/C—uncertain significance
rs77150969016:31,004,525G/T—uncertain significance
rs94586212016:31,004,538C/A—uncertain significance
rs205657292216:31,004,540C/T—uncertain significance
rs77577112116:31,004,541G/C—uncertain significance
rs118370787216:31,004,545C/T—uncertain significance
rs76087643016:31,004,546G/A—conflicting classifications of pathogenicity
rs254395446816:31,004,550A/G—likely benign
rs254395447816:31,004,554A/G—uncertain significance
rs72750280616:31,004,561C/Gmissense variantpathogenic
rs205657308116:31,004,563T/C—likely pathogenic
rs104147437516:31,004,567G/A—likely benign
rs254395450616:31,004,569C/T—likely benign
rs254395452316:31,004,578C/T—likely benign
rs254395470916:31,004,651G/A—likely benign
rs37591688916:31,004,657A/G—likely benign
rs77686768916:31,004,680G/A—likely benign
rs254395481516:31,004,694C/G—uncertain significance
rs72415997416:31,004,696A/Tmissense variantpathogenic
rs76989244216:31,004,706C/T—uncertain significance
rs77322226816:31,004,707G/A—likely benign
rs254395485116:31,004,711A/G—uncertain significance
rs214366183616:31,004,712G/C—uncertain significance
rs205657388616:31,004,715C/T—uncertain significance
rs76294345216:31,004,716G/A—likely benign
rs136675047816:31,004,721T/C—uncertain significance
rs254395490516:31,004,724T/C—uncertain significance
rs254395493216:31,004,731C/T—likely benign
rs6173398016:31,004,734C/T—likely benign
rs159671472316:31,004,748T/C—uncertain significance
rs75942795516:31,004,755C/T—likely benign
rs205657410916:31,004,756G/A—uncertain significance
rs57612704616:31,004,768T/C—conflicting classifications of pathogenicity
rs205657415316:31,004,771A/G—uncertain significance
rs75255750616:31,004,773C/T—likely benign
rs36931010716:31,004,774G/A—uncertain significance
rs76365148116:31,004,782C/T—likely benign
rs75335827716:31,004,783G/A—uncertain significance
rs254395500916:31,004,788C/T—likely benign
rs205657436616:31,004,795T/A—uncertain significance
rs214366200216:31,004,801T/C—uncertain significance
rs254395503416:31,004,803G/C—uncertain significance
rs14581530516:31,004,810G/C—benign
rs1244556816:31,004,812T/C—benign
rs78158215016:31,004,813G/A—uncertain significance
rs90340303216:31,004,815C/T—likely benign
rs74835631716:31,004,816G/A—likely benign
rs254395508716:31,004,823A/G—likely benign

Showing 100 of 295 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.