DLG4

discs large MAGUK scaffold protein 4

Summary

This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins 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. [provided by RefSeq, Jul 2008]

Known Variants168 total

rsidPosition (GRCh37)AllelesClassClinVar
rs31425317:7,091,650T/Cdownstream gene variant—
rs18784118817:7,092,763G/Adownstream gene variant—
rs14723248817:7,094,050C/T—likely benign
rs77931895317:7,094,063G/C—likely benign
rs98589109517:7,094,131T/C—uncertain significance
rs250790453117:7,094,578G/C—likely benign
rs56010034417:7,094,596C/T—benign
rs250790498517:7,094,654T/C—uncertain significance
rs214280874017:7,094,658T/G—uncertain significance
rs104567562017:7,094,663C/T—uncertain significance
rs214280886017:7,094,679T/C—pathogenic
rs250790783017:7,094,977G/A—pathogenic
rs31425117:7,095,198A/Cregulatory region variant—
rs75993296617:7,095,214C/T—likely benign
rs75293456017:7,095,227G/A—uncertain significance
rs75626708917:7,095,230C/T—uncertain significance
rs148812697817:7,095,281C/A—uncertain significance
rs37577752617:7,095,295C/T—likely benign
rs145119637917:7,095,310G/T—pathogenic
rs214282154317:7,096,262A/G—pathogenic
rs76738431817:7,096,281G/A—pathogenic
rs214282165117:7,096,298G/A—pathogenic
rs250791821917:7,096,301C/A—uncertain significance
rs250791848217:7,096,335T/C—uncertain significance
rs214282192517:7,096,373C/T—pathogenic
rs37310778717:7,096,374G/A—uncertain significance
rs20003885517:7,096,379G/A—likely benign
rs3544105717:7,096,390G/A—benign
rs206958714017:7,096,419G/A—uncertain significance
rs123123755017:7,096,456C/T—likely benign
rs214282521117:7,096,801C/T—pathogenic
rs250792198417:7,096,802G/A—conflicting classifications of pathogenicity
rs250792201317:7,096,805G/A—likely pathogenic
rs214282522417:7,096,823T/A—pathogenic
rs250792231517:7,096,849T/A—uncertain significance
rs37455032917:7,096,851G/A—likely benign
rs130502295717:7,096,875A/C—likely benign
rs214282574517:7,096,888G/A—likely pathogenic
rs250792259717:7,096,897T/C—uncertain significance
rs214282582917:7,096,904C/T—pathogenic
rs206961349617:7,096,905T/G—uncertain significance
rs37772988017:7,097,008G/A—likely benign
rs77810464817:7,097,031G/A—pathogenic
rs159744461417:7,097,161A/G—likely pathogenic
rs37067461817:7,097,167C/T—likely benign
rs250792529817:7,097,191C/G—not provided
rs11404297017:7,097,198G/A—likely benign
rs214282817017:7,097,301C/T—pathogenic
rs116068841417:7,097,302C/T—pathogenic
rs156752809217:7,097,309G/A—pathogenic
rs214282822817:7,097,312G/A—pathogenic
rs214282828617:7,097,321T/C—likely pathogenic
rs54203663017:7,097,636A/G—pathogenic
rs214283049117:7,097,637C/A—uncertain significance
rs214283050017:7,097,638C/G—uncertain significance
rs250792916617:7,097,644T/G—uncertain significance
rs132568386417:7,097,654T/C—uncertain significance
rs4128339317:7,097,670A/G—benign
rs250792942317:7,097,687G/A—uncertain significance
rs104852062317:7,097,689A/C—uncertain significance
rs143133772717:7,097,693G/A—uncertain significance
rs77347395917:7,097,695C/T—likely benign
rs250792949717:7,097,696G/A—uncertain significance
rs214283099617:7,097,704C/T—pathogenic
rs250792987117:7,097,749A/G—uncertain significance
rs135516621017:7,097,752C/T—conflicting classifications of pathogenicity
rs120760058017:7,097,753G/A—uncertain significance
rs36961904817:7,097,781G/A—likely benign
rs37321860917:7,097,799G/A—likely benign
rs20087986717:7,097,811G/T—likely benign
rs78085870817:7,099,569C/T—uncertain significance
rs214284228717:7,099,570G/A—uncertain significance
rs214284240917:7,099,588A/G—uncertain significance
rs250794094617:7,099,606T/G—uncertain significance
rs77149987517:7,099,624C/T—uncertain significance
rs206977892917:7,099,639C/A—pathogenic
rs206977943017:7,099,645G/A—pathogenic
rs250794256917:7,099,790A/C—likely pathogenic
rs250794261017:7,099,802A/C—pathogenic
rs1720328117:7,099,811A/G—benign
rs250794272817:7,099,813T/A—uncertain significance
rs156753207917:7,099,858G/A—pathogenic
rs159745270217:7,099,876G/A—pathogenic
rs214284416417:7,099,895C/A—pathogenic
rs136432422717:7,099,904G/C—likely benign
rs122709365417:7,100,076C/T—pathogenic
rs214284539017:7,100,087G/A—pathogenic
rs37701078417:7,100,155C/A—uncertain significance
rs250794581717:7,100,159C/T—uncertain significance
rs214284591517:7,100,164T/C—uncertain significance
rs76994021617:7,100,169G/A—conflicting classifications of pathogenicity
rs76473902017:7,100,221C/T—uncertain significance
rs250794630917:7,100,222G/A—pathogenic
rs76696006017:7,100,233C/T—uncertain significance
rs118289468417:7,100,234G/A—pathogenic
rs206982035817:7,100,239A/T—uncertain significance
rs89383423417:7,100,253G/A—likely benign
rs20166854717:7,100,269A/G—likely benign
rs74942243617:7,100,281C/T—uncertain significance
rs96662230317:7,100,296G/A—uncertain significance

Showing 100 of 168 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.