GP6

glycoprotein VI platelet

Summary

This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation. The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Known Variants198 total

rsidPosition (GRCh37)AllelesClassClinVar
rs165441019:55,524,813C/G——
rs1041794319:55,525,337G/A—benign
rs1041798119:55,525,388G/T—benign
rs102949226819:55,525,469A/G—uncertain significance
rs167115019:55,525,497A/G—benign
rs251685274719:55,525,501A/G—likely benign
rs77518393219:55,525,507C/T—benign
rs288641619:55,525,508G/A—benign
rs92358733219:55,525,514C/T—uncertain significance
rs11545901419:55,525,524T/G—benign
rs37216859119:55,525,568C/A—uncertain significance
rs87902257819:55,525,583C/T—uncertain significance
rs1041807419:55,525,586C/T—benign
rs165441219:55,525,596T/C—benign
rs54178645319:55,525,597G/A—likely benign
rs76195907019:55,525,631C/G—uncertain significance
rs20168153519:55,525,656T/C—uncertain significance
rs76680814819:55,525,664T/C—uncertain significance
rs75693424619:55,525,685T/C—uncertain significance
rs36853153119:55,525,690C/T—likely benign
rs57814543019:55,525,692G/A—likely benign
rs134674525619:55,525,712G/A—uncertain significance
rs37217592919:55,525,714G/C—uncertain significance
rs74834099919:55,525,723C/T—likely benign
rs76067354319:55,525,731G/A—likely benign
rs37513049519:55,525,758A/G—uncertain significance
rs20056679219:55,525,763A/C—likely benign
rs75375612019:55,525,786C/T—likely benign
rs14205345719:55,525,788T/C—uncertain significance
rs14631865119:55,525,798C/G—likely benign
rs77095724019:55,525,804G/A—likely benign
rs4127582219:55,525,818T/C—benign
rs122280013619:55,525,844G/T—uncertain significance
rs14173725619:55,525,854G/A—likely benign
rs75490477119:55,525,877G/A—uncertain significance
rs77659272319:55,525,879G/A—likely benign
rs146760434919:55,525,886G/A—uncertain significance
rs167115119:55,525,894A/G—benign
rs251685785419:55,525,918A/C—likely benign
rs251685812419:55,525,939T/G—likely benign
rs20194050319:55,525,964G/A—likely benign
rs101687972519:55,525,968A/G—uncertain significance
rs7469720319:55,526,026C/T—benign
rs78154879219:55,526,048T/C—uncertain significance
rs15080739419:55,526,069C/G—likely benign
rs78050528519:55,526,071A/G—likely benign
rs156858695419:55,526,072T/C—uncertain significance
rs37002658919:55,526,073C/A—uncertain significance
rs76916967319:55,526,088C/T—uncertain significance
rs145272438919:55,526,106G/A—likely benign
rs76671540619:55,526,107A/G—likely benign
rs20094026019:55,526,122C/G—uncertain significance
rs75131131319:55,526,127C/T—conflicting classifications of pathogenicity
rs76761470019:55,526,131C/T—likely benign
rs251686111719:55,526,154A/T—uncertain significance
rs139632325419:55,526,157A/C—uncertain significance
rs77954065819:55,526,162G/C—uncertain significance
rs18294078419:55,526,171C/T—uncertain significance
rs76148472119:55,526,190T/G—likely benign
rs37047722819:55,526,219C/T—likely benign
rs37359695519:55,526,220G/T—uncertain significance
rs74806763119:55,526,256C/T—uncertain significance
rs37564391019:55,526,257C/T—likely benign
rs18610327019:55,526,270C/T—uncertain significance
rs207380193419:55,526,283C/T—uncertain significance
rs75975188219:55,526,286C/A—uncertain significance
rs20141356819:55,526,306G/A—uncertain significance
rs36885859119:55,526,324G/A—uncertain significance
rs75787471519:55,526,334C/T—uncertain significance
rs20094810019:55,526,340C/G—conflicting classifications of pathogenicity
rs8034826519:55,526,342C/T—benign
rs75459054419:55,526,343G/A—uncertain significance
rs167115219:55,526,345T/Gmissense variantbenign
rs75795013819:55,526,346T/A—likely benign
rs74690751919:55,526,354G/A—uncertain significance
rs165441319:55,526,359A/Tsynonymous variantbenign
rs77086876219:55,526,361C/T—uncertain significance
rs77562623519:55,526,368G/T—likely benign
rs20043131119:55,526,371G/A—likely benign
rs230416619:55,526,373C/G—benign
rs20015115319:55,526,380G/A—likely benign
rs37334626119:55,526,385C/T—conflicting classifications of pathogenicity
rs75233215819:55,526,386G/A—likely benign
rs78105041619:55,526,413C/T—likely benign
rs37181780819:55,526,414G/A—uncertain significance
rs77993554119:55,526,419C/T—likely benign
rs20199741019:55,526,428C/T—likely benign
rs20175326419:55,526,429G/A—uncertain significance
rs251401944419:55,526,464A/G—likely benign
rs20143662919:55,526,466T/A—uncertain significance
rs6084330219:55,526,481C/T—likely benign
rs77933294519:55,526,487G/A—uncertain significance
rs251401978919:55,526,489A/C—uncertain significance
rs77208321319:55,526,493C/T—uncertain significance
rs37282967919:55,526,494C/T—likely benign
rs77147457819:55,526,524C/T—likely benign
rs54059944019:55,526,525G/A—uncertain significance
rs56394401219:55,526,528C/A—uncertain significance
rs121064880919:55,526,530G/A—likely benign
rs101781661419:55,526,549G/C—likely benign

Showing 100 of 198 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.