DLG2

discs large MAGUK scaffold protein 2

Summary

This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described, but their full-length nature is not known. [provided by RefSeq, Dec 2008]

Known Variants85 total

rsidPosition (GRCh37)AllelesClassClinVar
rs255016548311:83,170,916A/G—uncertain significance
rs255016618211:83,170,937A/G—uncertain significance
rs7726203711:83,170,957T/C—benign
rs36895951611:83,180,245C/T—uncertain significance
rs14633327711:83,182,703A/G—likely benign
rs3485735611:83,182,726G/C—uncertain significance
rs77700720111:83,182,761G/A—uncertain significance
rs78120897711:83,195,189T/C—uncertain significance
rs18263292611:83,195,436G/Aintron variant—
rs186477411:83,199,276C/Tintron variant—
rs143564712311:83,252,873C/A—uncertain significance
rs211648311:83,256,868C/Tintron variant—
rs143205411:83,260,225G/Aintron variant—
rs53153111:83,269,046C/Gintron variant—
rs430324811:83,274,175G/C——
rs50035911:83,274,485G/Aintron variant—
rs68325011:83,276,168A/T——
rs66773011:83,277,325T/A——
rs50562111:83,277,927A/T——
rs67132111:83,292,373T/Gintron variant—
rs1089814011:83,300,050C/T——
rs1229103311:83,332,929T/Cintron variant—
rs255192083311:83,344,270G/A—uncertain significance
rs388568311:83,455,707T/Cintron variant—
rs254902941711:83,497,774G/T—uncertain significance
rs204003585311:83,497,777C/G—uncertain significance
rs3506212811:83,497,809T/A—benign
rs91501625311:83,497,810G/A—uncertain significance
rs747994911:83,503,404T/A——
rs159512676211:83,544,686C/T—uncertain significance
rs125633966711:83,544,742C/T—uncertain significance
rs7680995411:83,580,306T/Cintron variant—
rs254273093111:83,585,472G/A—uncertain significance
rs75499379011:83,585,482G/A—uncertain significance
rs20123562711:83,585,487A/G—likely benign
rs74797506711:83,585,494T/C—likely benign
rs19071580711:83,585,512C/T—likely benign
rs79035611:83,620,787A/Gintron variant—
rs77957630611:83,641,423C/G—uncertain significance
rs128647536911:83,641,437C/T—uncertain significance
rs18166845911:83,641,456G/A—uncertain significance
rs37140964011:83,641,490T/C—benign
rs77140360911:83,641,522G/A—uncertain significance
rs37262836711:83,673,952A/T—uncertain significance
rs53683202211:83,673,968G/C—uncertain significance
rs254662275811:83,674,033G/C—uncertain significance
rs208994300211:83,676,390T/C—uncertain significance
rs254667633811:83,676,411G/A—uncertain significance
rs254667748211:83,676,451T/G—uncertain significance
rs96053111:83,676,586C/Gintron variant—
rs77590452211:83,691,604T/C—uncertain significance
rs254700457611:83,691,619A/G—uncertain significance
rs132978546611:83,770,477G/A—uncertain significance
rs76522477411:83,770,507C/T—uncertain significance
rs18867187511:83,810,055C/A—likely benign
rs75885262211:83,810,058C/G—likely benign
rs15082934211:83,818,329A/Gintron variant—
rs54446587311:83,970,462C/T——
rs55525556511:84,056,842T/C——
rs14609443611:84,114,681G/Aintron variant—
rs65548411:84,183,435T/A——
rs55783200411:84,245,709T/C—likely benign
rs37417734011:84,245,714C/T—uncertain significance
rs131410978911:84,245,738G/A—uncertain significance
rs77469332811:84,245,750C/G—uncertain significance
rs1050156811:84,247,123A/Gintron variant—
rs1050157011:84,417,846T/Cintron variant—
rs18236959311:84,538,614A/Gintron variant—
rs1089832011:84,613,857C/Tintron variant—
rs710293411:84,648,068T/G——
rs91792184411:84,742,373T/G——
rs5635045811:84,764,738C/A——
rs58239911:84,800,819C/Aintron variant—
rs145292811:84,822,321G/Cintron variant—
rs18166298511:84,822,727C/T—uncertain significance
rs7444349311:84,897,574G/Aintron variant—
rs11467754411:84,933,332A/Tintron variant—
rs14770409411:84,996,273T/C—benign
rs159594025011:84,996,309T/C—likely benign
rs1714809011:85,017,476A/C——
rs14574211411:85,094,809T/Cintron variant—
rs1089839211:85,164,751G/A——
rs712799111:85,233,733C/Tintron variant—
rs57176937811:85,259,785C/T——
rs53666511:85,322,400A/Gintron variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.