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

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs314253	17:7,091,650	T/C	downstream gene variant	—
rs187841188	17:7,092,763	G/A	downstream gene variant	—
rs147232488	17:7,094,050	C/T	—	likely benign
rs779318953	17:7,094,063	G/C	—	likely benign
rs985891095	17:7,094,131	T/C	—	uncertain significance
rs2507904531	17:7,094,578	G/C	—	likely benign
rs560100344	17:7,094,596	C/T	—	benign
rs2507904985	17:7,094,654	T/C	—	uncertain significance
rs2142808740	17:7,094,658	T/G	—	uncertain significance
rs1045675620	17:7,094,663	C/T	—	uncertain significance
rs2142808860	17:7,094,679	T/C	—	pathogenic
rs2507907830	17:7,094,977	G/A	—	pathogenic
rs314251	17:7,095,198	A/C	regulatory region variant	—
rs759932966	17:7,095,214	C/T	—	likely benign
rs752934560	17:7,095,227	G/A	—	uncertain significance
rs756267089	17:7,095,230	C/T	—	uncertain significance
rs1488126978	17:7,095,281	C/A	—	uncertain significance
rs375777526	17:7,095,295	C/T	—	likely benign
rs1451196379	17:7,095,310	G/T	—	pathogenic
rs2142821543	17:7,096,262	A/G	—	pathogenic
rs767384318	17:7,096,281	G/A	—	pathogenic
rs2142821651	17:7,096,298	G/A	—	pathogenic
rs2507918219	17:7,096,301	C/A	—	uncertain significance
rs2507918482	17:7,096,335	T/C	—	uncertain significance
rs2142821925	17:7,096,373	C/T	—	pathogenic
rs373107787	17:7,096,374	G/A	—	uncertain significance
rs200038855	17:7,096,379	G/A	—	likely benign
rs35441057	17:7,096,390	G/A	—	benign
rs2069587140	17:7,096,419	G/A	—	uncertain significance
rs1231237550	17:7,096,456	C/T	—	likely benign
rs2142825211	17:7,096,801	C/T	—	pathogenic
rs2507921984	17:7,096,802	G/A	—	conflicting classifications of pathogenicity
rs2507922013	17:7,096,805	G/A	—	likely pathogenic
rs2142825224	17:7,096,823	T/A	—	pathogenic
rs2507922315	17:7,096,849	T/A	—	uncertain significance
rs374550329	17:7,096,851	G/A	—	likely benign
rs1305022957	17:7,096,875	A/C	—	likely benign
rs2142825745	17:7,096,888	G/A	—	likely pathogenic
rs2507922597	17:7,096,897	T/C	—	uncertain significance
rs2142825829	17:7,096,904	C/T	—	pathogenic
rs2069613496	17:7,096,905	T/G	—	uncertain significance
rs377729880	17:7,097,008	G/A	—	likely benign
rs778104648	17:7,097,031	G/A	—	pathogenic
rs1597444614	17:7,097,161	A/G	—	likely pathogenic
rs370674618	17:7,097,167	C/T	—	likely benign
rs2507925298	17:7,097,191	C/G	—	not provided
rs114042970	17:7,097,198	G/A	—	likely benign
rs2142828170	17:7,097,301	C/T	—	pathogenic
rs1160688414	17:7,097,302	C/T	—	pathogenic
rs1567528092	17:7,097,309	G/A	—	pathogenic
rs2142828228	17:7,097,312	G/A	—	pathogenic
rs2142828286	17:7,097,321	T/C	—	likely pathogenic
rs542036630	17:7,097,636	A/G	—	pathogenic
rs2142830491	17:7,097,637	C/A	—	uncertain significance
rs2142830500	17:7,097,638	C/G	—	uncertain significance
rs2507929166	17:7,097,644	T/G	—	uncertain significance
rs1325683864	17:7,097,654	T/C	—	uncertain significance
rs41283393	17:7,097,670	A/G	—	benign
rs2507929423	17:7,097,687	G/A	—	uncertain significance
rs1048520623	17:7,097,689	A/C	—	uncertain significance
rs1431337727	17:7,097,693	G/A	—	uncertain significance
rs773473959	17:7,097,695	C/T	—	likely benign
rs2507929497	17:7,097,696	G/A	—	uncertain significance
rs2142830996	17:7,097,704	C/T	—	pathogenic
rs2507929871	17:7,097,749	A/G	—	uncertain significance
rs1355166210	17:7,097,752	C/T	—	conflicting classifications of pathogenicity
rs1207600580	17:7,097,753	G/A	—	uncertain significance
rs369619048	17:7,097,781	G/A	—	likely benign
rs373218609	17:7,097,799	G/A	—	likely benign
rs200879867	17:7,097,811	G/T	—	likely benign
rs780858708	17:7,099,569	C/T	—	uncertain significance
rs2142842287	17:7,099,570	G/A	—	uncertain significance
rs2142842409	17:7,099,588	A/G	—	uncertain significance
rs2507940946	17:7,099,606	T/G	—	uncertain significance
rs771499875	17:7,099,624	C/T	—	uncertain significance
rs2069778929	17:7,099,639	C/A	—	pathogenic
rs2069779430	17:7,099,645	G/A	—	pathogenic
rs2507942569	17:7,099,790	A/C	—	likely pathogenic
rs2507942610	17:7,099,802	A/C	—	pathogenic
rs17203281	17:7,099,811	A/G	—	benign
rs2507942728	17:7,099,813	T/A	—	uncertain significance
rs1567532079	17:7,099,858	G/A	—	pathogenic
rs1597452702	17:7,099,876	G/A	—	pathogenic
rs2142844164	17:7,099,895	C/A	—	pathogenic
rs1364324227	17:7,099,904	G/C	—	likely benign
rs1227093654	17:7,100,076	C/T	—	pathogenic
rs2142845390	17:7,100,087	G/A	—	pathogenic
rs377010784	17:7,100,155	C/A	—	uncertain significance
rs2507945817	17:7,100,159	C/T	—	uncertain significance
rs2142845915	17:7,100,164	T/C	—	uncertain significance
rs769940216	17:7,100,169	G/A	—	conflicting classifications of pathogenicity
rs764739020	17:7,100,221	C/T	—	uncertain significance
rs2507946309	17:7,100,222	G/A	—	pathogenic
rs766960060	17:7,100,233	C/T	—	uncertain significance
rs1182894684	17:7,100,234	G/A	—	pathogenic
rs2069820358	17:7,100,239	A/T	—	uncertain significance
rs893834234	17:7,100,253	G/A	—	likely benign
rs201668547	17:7,100,269	A/G	—	likely benign
rs749422436	17:7,100,281	C/T	—	uncertain significance
rs966622303	17:7,100,296	G/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.