DLG5

discs large MAGUK scaffold protein 5

Summary

This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]

Known Variants173 total

rsidPosition (GRCh37)AllelesClassClinVar
rs216504710:79,551,640C/Tcoding sequence variant—
rs77467933110:79,552,249C/G—uncertain significance
rs249216799310:79,552,284C/T—uncertain significance
rs7466428510:79,553,756G/A—likely benign
rs14523241410:79,553,807G/C—uncertain significance
rs105819910:79,553,815C/T—benign
rs14225011710:79,553,834T/A—uncertain significance
rs38635229810:79,554,667T/G—uncertain significance
rs160364104510:79,554,693A/G—likely benign
rs77943888010:79,555,848C/T—uncertain significance
rs77648088210:79,555,870G/A—likely benign
rs76192154510:79,555,878G/A—uncertain significance
rs147629767810:79,555,904T/C—uncertain significance
rs7414033310:79,556,301A/G—benign
rs7414033410:79,556,305C/T—benign
rs257914810:79,560,316C/A——
rs115863950610:79,565,504G/C—uncertain significance
rs14601978710:79,565,518C/T—uncertain significance
rs74840459210:79,565,519G/A—uncertain significance
rs77245630610:79,565,542G/A—uncertain significance
rs184143976610:79,565,549G/C—uncertain significance
rs4127458010:79,565,571A/G—benign
rs249239810210:79,566,645C/T—uncertain significance
rs14773389910:79,566,664C/T—likely benign
rs497979410:79,566,684G/A—benign
rs75327689510:79,567,584T/C—uncertain significance
rs15129967610:79,567,613C/G—uncertain significance
rs77980958210:79,567,614T/A—uncertain significance
rs76837777810:79,567,630C/T—likely benign
rs126495319710:79,567,659T/C—uncertain significance
rs14533209210:79,567,688G/A—benign
rs77762680110:79,569,328C/T—uncertain significance
rs13873401210:79,569,475C/G—uncertain significance
rs14932074410:79,569,477T/C—uncertain significance
rs143863212310:79,570,879G/T—uncertain significance
rs20007118710:79,570,888C/A—uncertain significance
rs14147797910:79,570,933G/A—uncertain significance
rs20023787810:79,570,974G/A—benign
rs36865578310:79,571,689G/A—uncertain significance
rs13987907110:79,571,713C/T—likely benign
rs20124779810:79,571,746T/C—uncertain significance
rs128777360010:79,572,050C/T—uncertain significance
rs75500468410:79,572,124T/C—uncertain significance
rs14938097710:79,572,587T/Cintron variant—
rs1100230110:79,574,078G/Aintron variant—
rs249256782310:79,576,394A/G—uncertain significance
rs36948355410:79,576,408A/G—uncertain significance
rs91386895910:79,576,439A/T—uncertain significance
rs14379016010:79,576,454C/A—likely benign
rs75346331010:79,577,591T/G—uncertain significance
rs14725308210:79,577,631G/A—uncertain significance
rs37595851310:79,577,652G/A—benign
rs124863610:79,578,580C/Aintron variant—
rs56194607410:79,579,115G/A—likely benign
rs137718709710:79,579,119G/A—uncertain significance
rs74628673410:79,579,151C/T—uncertain significance
rs14246677510:79,579,175A/G—uncertain significance
rs77616947310:79,579,203T/C—uncertain significance
rs19956939510:79,579,211C/T—uncertain significance
rs124863410:79,579,222G/Asplice region variant—
rs228930810:79,579,251G/Aregulatory region variant—
rs13936033410:79,579,679G/C—uncertain significance
rs249204526610:79,579,703T/C—uncertain significance
rs76550374810:79,579,746G/A—uncertain significance
rs249204655710:79,579,748T/C—uncertain significance
rs74701241210:79,580,880G/A—uncertain significance
rs14881686910:79,580,883C/G—uncertain significance
rs14360537310:79,580,884G/C—uncertain significance
rs14605747310:79,580,943G/A—uncertain significance
rs4127458610:79,580,976G/Amissense variant—
rs15063264410:79,580,997T/C—uncertain significance
rs14403288110:79,581,027C/T—uncertain significance
rs20135486310:79,581,042C/T—conflicting classifications of pathogenicity
rs137181319710:79,581,079C/T—uncertain significance
rs7482079910:79,581,098C/T—benign
rs20181826610:79,581,145C/T—uncertain significance
rs19976773410:79,581,146G/A—likely benign
rs75559874210:79,581,189C/T—uncertain significance
rs75704451710:79,581,208G/T—uncertain significance
rs74721142910:79,581,217G/T—uncertain significance
rs74986613510:79,581,235G/T—uncertain significance
rs13977932210:79,581,250C/T—uncertain significance
rs14450332710:79,581,251A/C—benign
rs249209528410:79,581,261C/T—uncertain significance
rs18098512210:79,581,274A/G—uncertain significance
rs14012108010:79,581,301G/A—uncertain significance
rs14328497010:79,581,343G/A—uncertain significance
rs20085791810:79,581,386G/A—likely benign
rs75293967710:79,581,390A/G—uncertain significance
rs77949305010:79,581,410G/A—likely benign
rs75183627210:79,581,459A/G—likely benign
rs76435215310:79,581,471C/T—uncertain significance
rs103135286310:79,581,505G/A—uncertain significance
rs135171939010:79,581,520C/G—uncertain significance
rs11326822710:79,581,534C/T—uncertain significance
rs184237596610:79,581,536G/T—likely benign
rs14329055610:79,581,557G/T—uncertain significance
rs55497501310:79,581,561G/C—uncertain significance
rs18639714010:79,581,573C/T—likely benign
rs36900297610:79,581,696G/A—uncertain significance

Showing 100 of 173 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.