PLVAP

plasmalemma vesicle associated protein

Summary

Predicted to enable identical protein binding activity. Involved in MAPK cascade; positive regulation of cellular extravasation; and tumor necrosis factor-mediated signaling pathway. Located in caveola and cell surface. Implicated in congenital diarrhea. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants162 total

rsidPosition (GRCh37)AllelesClassClinVar
rs144201576019:17,463,183G/A—likely benign
rs54169213519:17,463,185A/G—likely benign
rs251322512319:17,471,326C/T—likely benign
rs251322512819:17,471,330G/A—likely benign
rs3607489719:17,471,346G/A—conflicting classifications of pathogenicity
rs91769749519:17,471,351A/G—likely benign
rs11740148619:17,471,363A/G—benign
rs53553360419:17,471,365G/A—uncertain significance
rs97778681819:17,471,381C/T—likely benign
rs37280246219:17,471,385A/G—uncertain significance
rs74606969219:17,471,390C/T—likely benign
rs251322523219:17,471,399C/T—likely benign
rs138192895319:17,471,434G/C—likely benign
rs11208605219:17,471,437G/A—likely benign
rs37462731719:17,471,571T/C—likely benign
rs74691618119:17,471,582G/A—uncertain significance
rs207452487119:17,471,587G/A—uncertain significance
rs37083055819:17,471,588C/G—uncertain significance
rs37394228719:17,471,591G/C—benign
rs76944914219:17,471,593G/T—uncertain significance
rs251322547219:17,471,606G/A—likely benign
rs159957332419:17,471,624T/G—likely benign
rs76810693519:17,471,630C/T—likely benign
rs14967966519:17,471,633C/T—likely benign
rs11769165919:17,471,634G/A—likely benign
rs78012619419:17,471,635G/T—uncertain significance
rs14841272019:17,471,639C/T—likely benign
rs251322552419:17,471,645T/C—likely benign
rs37273626919:17,476,088A/G—likely benign
rs75397692319:17,476,102T/C—likely benign
rs214572266819:17,476,121C/T—uncertain significance
rs74892993619:17,476,128T/C—likely benign
rs14250039119:17,476,153T/G—conflicting classifications of pathogenicity
rs53538350019:17,476,158C/T—likely benign
rs76115849219:17,476,202G/A—pathogenic
rs77666291519:17,476,206C/T—likely benign
rs251322885019:17,476,207T/G—uncertain significance
rs14110650819:17,476,210C/T—uncertain significance
rs75028885419:17,476,219G/A—uncertain significance
rs78009704819:17,476,233C/T—likely benign
rs11207242919:17,476,234G/A—likely benign
rs251322891819:17,476,245C/T—likely benign
rs77168053819:17,476,250G/A—uncertain significance
rs381020819:17,476,251G/C—benign
rs117537142019:17,476,256A/T—uncertain significance
rs77131831819:17,476,269C/T—likely benign
rs76991288019:17,476,275C/A—uncertain significance
rs148961074519:17,476,284C/T—likely benign
rs19971252719:17,476,286G/A—pathogenic
rs77847766819:17,476,296C/T—likely benign
rs75972627419:17,476,322T/C—uncertain significance
rs20220001319:17,476,327C/T—conflicting classifications of pathogenicity
rs13878900019:17,476,328G/A—likely benign
rs251322909019:17,476,342G/A—likely benign
rs76887664119:17,476,350C/T—likely benign
rs207454555219:17,476,356G/A—likely benign
rs14935779619:17,476,362G/A—likely benign
rs14703507319:17,476,377G/A—likely benign
rs13858400819:17,476,378C/T—uncertain significance
rs20049121019:17,476,385C/T—uncertain significance
rs76359706319:17,476,388G/T—uncertain significance
rs37070428419:17,476,390T/C—uncertain significance
rs78159808919:17,476,392G/T—likely benign
rs14729927519:17,476,398C/T—likely benign
rs14876209319:17,476,402C/T—uncertain significance
rs14151491519:17,476,403G/A—uncertain significance
rs15026031119:17,476,411C/T—uncertain significance
rs251322922219:17,476,430T/G—uncertain significance
rs102860766219:17,476,443G/A—likely benign
rs54308621919:17,476,450A/G—uncertain significance
rs14401133919:17,476,458G/A—likely benign
rs75010959919:17,476,465C/G—uncertain significance
rs78046840519:17,476,469G/A—uncertain significance
rs6173931219:17,476,478C/G—likely benign
rs55229476419:17,476,485C/T—likely benign
rs11168175219:17,476,488G/T—likely benign
rs207454667819:17,476,495G/T—uncertain significance
rs37733062619:17,476,506G/A—likely benign
rs14641093819:17,476,518G/A—likely benign
rs132803299619:17,476,523C/T—uncertain significance
rs207454702419:17,476,560A/C—likely benign
rs14345389119:17,476,561C/T—uncertain significance
rs116688282619:17,476,626C/T—likely benign
rs77421484219:17,476,635C/T—likely benign
rs37750065319:17,476,638C/T—likely benign
rs251322953319:17,476,640G/A—pathogenic
rs77147623919:17,476,642C/A—uncertain significance
rs77283927219:17,476,643G/A—uncertain significance
rs76617478019:17,476,650G/T—likely benign
rs13893896119:17,476,663C/T—likely benign
rs37072665719:17,476,673C/T—uncertain significance
rs36772635119:17,476,686C/A—uncertain significance
rs14936298719:17,476,695C/G—likely benign
rs78125980219:17,476,696G/A—likely benign
rs15128629419:17,476,700C/T—uncertain significance
rs77059206719:17,476,701G/A—likely benign
rs99426014019:17,476,702C/G—uncertain significance
rs77636818019:17,476,703G/T—uncertain significance
rs19954777919:17,476,719G/A—likely benign
rs207454813419:17,476,741A/T—uncertain significance

Showing 100 of 162 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.