STXBP2

syntaxin binding protein 2

Summary

This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]

Known Variants858 total

rsidPosition (GRCh37)AllelesClassClinVar
rs186251419:7,698,320C/T—benign
rs227904319:7,701,666C/A—benign
rs735990519:7,701,748T/C—benign
rs159938613919:7,702,040C/T—uncertain significance
rs203157395719:7,702,041G/A—likely benign
rs101521272719:7,702,042C/T—uncertain significance
rs214620256219:7,702,044C/G—uncertain significance
rs147955749819:7,702,047G/C—likely benign
rs88605470019:7,702,049G/A—uncertain significance
rs126829832519:7,702,051C/T—likely benign
rs214620259419:7,702,056G/A—likely benign
rs101394973219:7,702,057G/A—uncertain significance
rs102360709219:7,702,059G/C—likely benign
rs96939352719:7,702,062G/C—likely benign
rs209894235919:7,702,064T/C—uncertain significance
rs159938619819:7,702,065G/A—likely benign
rs76546642619:7,702,071A/G—uncertain significance
rs126106004919:7,702,077G/A—likely pathogenic
rs122988383819:7,702,079G/T—conflicting classifications of pathogenicity
rs92536397019:7,702,086C/T—likely benign
rs251267804319:7,702,087G/A—likely benign
rs251267805419:7,702,090G/C—likely benign
rs140137213719:7,702,091C/T—likely benign
rs95680816319:7,702,092C/T—likely benign
rs79407619:7,702,136A/G—benign
rs11566824619:7,703,582A/C—benign
rs203166633819:7,703,592C/T—likely benign
rs54703569719:7,703,594C/T—likely benign
rs20199650219:7,703,595C/T—likely benign
rs810433919:7,703,605T/C—benign
rs214620611019:7,703,621G/A—uncertain significance
rs13854871219:7,703,622C/T—likely benign
rs14616501419:7,703,623G/A—conflicting classifications of pathogenicity
rs103057581219:7,703,632C/T—uncertain significance
rs140176615819:7,703,642A/G—uncertain significance
rs76328811719:7,703,646G/C—likely benign
rs79648850519:7,703,653G/C—uncertain significance
rs214620622619:7,703,661G/A—uncertain significance
rs129099104019:7,703,662G/A—likely pathogenic
rs159938904119:7,703,663T/C—pathogenic
rs214620623819:7,703,664A/T—uncertain significance
rs148894212919:7,703,676G/A—likely benign
rs119373895419:7,703,677A/G—likely benign
rs120575505619:7,703,680G/A—likely benign
rs74825370519:7,703,893C/T—likely benign
rs135502275019:7,703,894C/T—likely benign
rs203168212519:7,703,895A/G—likely benign
rs203168226819:7,703,897C/G—likely benign
rs214620667219:7,703,902C/T—uncertain significance
rs76991801019:7,703,914A/G—uncertain significance
rs77339774119:7,703,923C/T—uncertain significance
rs76319908119:7,703,924C/G—uncertain significance
rs19957920719:7,703,932C/T—uncertain significance
rs20030646319:7,703,933G/A—uncertain significance
rs251268310719:7,703,946C/G—likely benign
rs75320502619:7,703,949C/A—pathogenic
rs214620676919:7,703,950T/C—uncertain significance
rs135864152619:7,703,954A/G—uncertain significance
rs251268313119:7,703,956A/G—uncertain significance
rs251268314019:7,703,960C/G—likely pathogenic
rs88605470119:7,703,962G/C—uncertain significance
rs1153894519:7,703,982C/T—likely benign
rs13800789219:7,703,984C/T—uncertain significance
rs155576897919:7,703,988T/G—pathogenic
rs18724052119:7,703,996C/T—likely benign
rs75635086919:7,703,997G/C—conflicting classifications of pathogenicity
rs11523977419:7,703,998C/T—benign
rs75819410119:7,703,999G/A—likely benign
rs146411425219:7,704,001C/A—likely benign
rs78002753219:7,704,002C/T—likely benign
rs120644654919:7,704,006G/C—likely benign
rs76122542519:7,704,599T/C—likely benign
rs129646289619:7,704,601C/T—likely benign
rs251268472119:7,704,602C/T—likely benign
rs203170937019:7,704,604C/A—likely benign
rs76472037919:7,704,605T/C—likely benign
rs94629104219:7,704,606G/C—likely benign
rs214620790319:7,704,613C/T—likely benign
rs144794770019:7,704,615A/G—uncertain significance
rs214620793619:7,704,624A/C—uncertain significance
rs203171037019:7,704,625G/A—uncertain significance
rs251268480219:7,704,627C/T—likely benign
rs36828313019:7,704,631A/G—uncertain significance
rs54096822119:7,704,632A/G—likely benign
rs76493784119:7,704,637C/T—uncertain significance
rs75818854519:7,704,640C/T—not provided
rs14171705019:7,704,641G/A—pathogenic
rs147708881019:7,704,649A/G—uncertain significance
rs53238077619:7,704,652C/G—uncertain significance
rs78111670319:7,704,655A/G—uncertain significance
rs203171303619:7,704,667A/T—uncertain significance
rs74936891019:7,704,676C/T—likely benign
rs105075830619:7,704,680G/T—uncertain significance
rs148196787819:7,704,681C/T—likely benign
rs88951518519:7,704,682C/T—uncertain significance
rs125050233219:7,704,684C/T—likely benign
rs251268499819:7,704,685A/T—uncertain significance
rs37237081519:7,704,687G/A—likely benign
rs77917600119:7,704,689A/G—uncertain significance
rs214620818419:7,704,694G/T—likely pathogenic

Showing 100 of 858 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.