DLG1
discs large MAGUK scaffold protein 1
Summary
This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. A multitude of transcript variants deriving from alternative splicing and the use of multiple alternate promoter have been observed, including some splice variants that may be specific to brain and other tissues. An upstream uORF may regulate translation at some splice variants of this gene. [provided by RefSeq, Sep 2018]
Known Variants79 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs746662289 | 3:196,771,506 | T/G | — | uncertain significance |
| rs34492126 | 3:196,771,513 | G/A | — | benign |
| rs2474326851 | 3:196,771,547 | T/G | — | uncertain significance |
| rs35370245 | 3:196,771,554 | T/C | — | benign |
| rs778889719 | 3:196,771,586 | C/T | — | uncertain significance |
| rs534071489 | 3:196,778,439 | G/A | — | likely benign |
| rs2148710754 | 3:196,778,475 | C/T | — | uncertain significance |
| rs1306451100 | 3:196,778,492 | T/C | — | uncertain significance |
| rs779555154 | 3:196,778,525 | C/T | — | uncertain significance |
| rs144664342 | 3:196,781,708 | C/T | intron variant | — |
| rs2148821854 | 3:196,786,764 | T/C | — | uncertain significance |
| rs1738774931 | 3:196,792,161 | C/T | — | uncertain significance |
| rs78190191 | 3:196,792,163 | T/C | — | benign |
| rs117248178 | 3:196,792,196 | T/C | — | uncertain significance |
| rs1738797638 | 3:196,792,204 | C/A | — | uncertain significance |
| rs74674649 | 3:196,796,090 | G/A | — | likely benign |
| rs1741874745 | 3:196,796,123 | T/C | — | uncertain significance |
| rs759793588 | 3:196,796,130 | C/G | — | uncertain significance |
| rs35430440 | 3:196,807,928 | C/A | — | benign |
| rs952945407 | 3:196,807,929 | T/C | — | uncertain significance |
| rs775676371 | 3:196,807,932 | C/G | — | uncertain significance |
| rs763877437 | 3:196,812,457 | T/A | — | uncertain significance |
| rs1365297716 | 3:196,812,592 | C/A | — | uncertain significance |
| rs769502806 | 3:196,817,813 | C/T | — | uncertain significance |
| rs9826379 | 3:196,827,248 | T/A | — | — |
| rs370433327 | 3:196,831,765 | T/C | — | likely benign |
| rs2546374539 | 3:196,831,803 | A/G | — | uncertain significance |
| rs1388030280 | 3:196,831,870 | T/C | — | uncertain significance |
| rs79212676 | 3:196,842,831 | A/G | — | benign |
| rs2546569965 | 3:196,842,893 | C/T | — | uncertain significance |
| rs200331171 | 3:196,842,919 | G/C | — | uncertain significance |
| rs770848633 | 3:196,842,938 | C/G | — | uncertain significance |
| rs201300547 | 3:196,846,372 | T/G | — | uncertain significance |
| rs199875499 | 3:196,846,376 | A/G | — | likely benign |
| rs571186311 | 3:196,857,478 | G/C | — | likely benign |
| rs749214941 | 3:196,857,505 | T/G | — | uncertain significance |
| rs151290819 | 3:196,857,533 | C/T | — | likely benign |
| rs752891618 | 3:196,863,416 | T/C | — | likely benign |
| rs760948969 | 3:196,863,418 | A/G | — | likely benign |
| rs146460812 | 3:196,863,527 | T/G | — | likely benign |
| rs1580119960 | 3:196,865,141 | G/T | — | uncertain significance |
| rs914853180 | 3:196,865,151 | T/G | — | uncertain significance |
| rs7646328 | 3:196,865,190 | C/T | — | benign |
| rs2271822 | 3:196,865,191 | G/A | — | benign |
| rs545509250 | 3:196,865,221 | C/T | — | uncertain significance |
| rs200110103 | 3:196,867,023 | T/C | — | uncertain significance |
| rs6804327 | 3:196,870,737 | C/G | intron variant | — |
| rs73210523 | 3:196,876,600 | G/A | intron variant | — |
| rs2547112173 | 3:196,876,633 | C/A | — | uncertain significance |
| rs750566095 | 3:196,876,636 | T/C | — | uncertain significance |
| rs143611703 | 3:196,876,650 | T/A | — | benign |
| rs2149894843 | 3:196,888,520 | G/A | — | likely benign |
| rs781133340 | 3:196,888,552 | C/G | — | uncertain significance |
| rs557113489 | 3:196,910,437 | G/A | — | likely benign |
| rs1713871670 | 3:196,910,440 | T/C | — | likely benign |
| rs575404686 | 3:196,910,462 | G/A | — | likely benign |
| rs757204806 | 3:196,921,299 | T/C | — | uncertain significance |
| rs2547690147 | 3:196,921,373 | G/C | — | uncertain significance |
| rs1157450269 | 3:196,921,420 | T/C | — | uncertain significance |
| rs78014638 | 3:196,921,446 | C/T | — | likely benign |
| rs7649443 | 3:196,931,821 | T/C | intron variant | — |
| rs529040721 | 3:196,932,512 | C/A | — | — |
| rs13060782 | 3:196,936,329 | T/G | intron variant | — |
| rs185234985 | 3:196,941,401 | G/A | intron variant | — |
| rs34381158 | 3:196,946,647 | A/G | intron variant | — |
| rs6782349 | 3:196,948,807 | C/T | intron variant | — |
| rs6805920 | 3:196,962,329 | A/C | intron variant | — |
| rs13077565 | 3:196,966,820 | C/A | — | — |
| rs7624764 | 3:196,971,197 | G/A | — | — |
| rs9843659 | 3:196,985,596 | C/T | intron variant | — |
| rs191977847 | 3:197,000,103 | A/T | intron variant | — |
| rs2548514864 | 3:197,009,591 | T/C | — | uncertain significance |
| rs2548516005 | 3:197,009,696 | C/A | — | uncertain significance |
| rs3915512 | 3:197,022,240 | A/T | regulatory region variant | — |
| rs2548654552 | 3:197,023,250 | T/C | — | uncertain significance |
| rs768255606 | 3:197,023,295 | T/C | — | uncertain significance |
| rs769433622 | 3:197,023,321 | T/C | — | uncertain significance |
| rs772746560 | 3:197,023,329 | G/T | — | uncertain significance |
| rs338217 | 3:197,026,927 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.