MAGI1
membrane associated guanylate kinase, WW and PDZ domain containing 1
Summary
The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Known Variants81 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1260404227 | 3:65,342,337 | G/A | — | uncertain significance |
| rs2471614271 | 3:65,342,379 | G/A | — | likely benign |
| rs1395922833 | 3:65,342,772 | G/A | — | uncertain significance |
| rs144736804 | 3:65,346,924 | C/T | — | uncertain significance |
| rs766569102 | 3:65,346,933 | T/C | — | uncertain significance |
| rs141617754 | 3:65,349,184 | G/A | — | uncertain significance |
| rs1941263166 | 3:65,350,567 | G/T | — | uncertain significance |
| rs2471673071 | 3:65,350,606 | G/T | — | uncertain significance |
| rs2471760852 | 3:65,361,513 | C/T | — | uncertain significance |
| rs2471761516 | 3:65,361,620 | C/A | — | uncertain significance |
| rs1384914199 | 3:65,365,008 | G/A | — | uncertain significance |
| rs149468264 | 3:65,365,020 | C/T | — | uncertain significance |
| rs1341127629 | 3:65,365,056 | T/C | — | uncertain significance |
| rs1260087353 | 3:65,365,074 | T/G | — | uncertain significance |
| rs368569997 | 3:65,365,145 | C/T | — | uncertain significance |
| rs745320055 | 3:65,365,152 | C/G | — | uncertain significance |
| rs143546019 | 3:65,365,212 | C/T | — | uncertain significance |
| rs200362587 | 3:65,367,554 | G/A | — | uncertain significance |
| rs201936743 | 3:65,367,689 | C/G | — | uncertain significance |
| rs371939525 | 3:65,367,696 | G/A | — | uncertain significance |
| rs376560565 | 3:65,367,726 | C/T | — | uncertain significance |
| rs978491426 | 3:65,369,280 | T/A | — | uncertain significance |
| rs2471905303 | 3:65,376,823 | T/G | — | uncertain significance |
| rs2471905309 | 3:65,376,824 | T/G | — | uncertain significance |
| rs2471905313 | 3:65,376,825 | T/G | — | uncertain significance |
| rs1943899067 | 3:65,376,840 | G/C | — | uncertain significance |
| rs770193154 | 3:65,376,868 | G/T | — | uncertain significance |
| rs1559517701 | 3:65,376,928 | C/T | — | uncertain significance |
| rs1943905644 | 3:65,376,999 | G/A | — | uncertain significance |
| rs762292211 | 3:65,377,029 | G/A | — | uncertain significance |
| rs1016553 | 3:65,379,294 | A/G | intron variant | — |
| rs7649739 | 3:65,398,898 | G/A | intron variant | — |
| rs61754217 | 3:65,415,253 | T/C | — | benign |
| rs751502191 | 3:65,415,276 | C/G | — | uncertain significance |
| rs558455871 | 3:65,415,411 | T/A | — | uncertain significance |
| rs200229876 | 3:65,415,491 | T/C | — | uncertain significance |
| rs1210777644 | 3:65,415,500 | G/C | — | uncertain significance |
| rs141393129 | 3:65,415,540 | C/T | — | uncertain significance |
| rs2472209338 | 3:65,415,729 | C/T | — | uncertain significance |
| rs1947399539 | 3:65,416,538 | C/T | — | uncertain significance |
| rs148740667 | 3:65,422,899 | G/C | — | uncertain significance |
| rs770861590 | 3:65,425,600 | C/T | — | likely benign |
| rs567255206 | 3:65,425,612 | C/T | — | likely benign |
| rs754436739 | 3:65,428,479 | A/G | — | uncertain significance |
| rs141859891 | 3:65,428,480 | T/C | — | likely benign |
| rs4402868 | 3:65,429,326 | T/A | intron variant | — |
| rs763041850 | 3:65,433,708 | T/A | — | uncertain significance |
| rs562464347 | 3:65,433,713 | C/A | — | uncertain significance |
| rs749076951 | 3:65,455,988 | T/G | — | uncertain significance |
| rs766571470 | 3:65,456,082 | G/A | — | uncertain significance |
| rs113860090 | 3:65,456,135 | T/C | — | likely benign |
| rs62255274 | 3:65,456,154 | A/T | — | likely benign |
| rs62255275 | 3:65,456,156 | T/A | — | likely benign |
| rs199930661 | 3:65,464,311 | T/C | — | uncertain significance |
| rs2472606559 | 3:65,464,330 | C/A | — | uncertain significance |
| rs138385635 | 3:65,464,336 | T/C | — | uncertain significance |
| rs772547083 | 3:65,464,347 | T/C | — | uncertain significance |
| rs201752505 | 3:65,464,383 | G/C | — | uncertain significance |
| rs1193567629 | 3:65,464,453 | T/C | — | uncertain significance |
| rs61746260 | 3:65,464,467 | T/G | — | uncertain significance |
| rs370122762 | 3:65,479,274 | G/A | — | uncertain significance |
| rs1524976 | 3:65,486,388 | A/G | regulatory region variant | — |
| rs10510939 | 3:65,507,808 | T/C | intron variant | — |
| rs11720595 | 3:65,518,274 | C/G | intron variant | — |
| rs35855737 | 3:65,542,856 | T/C | regulatory region variant | — |
| rs6445487 | 3:65,592,163 | A/C | — | — |
| rs141586740 | 3:65,607,662 | G/A | — | uncertain significance |
| rs776259426 | 3:65,607,671 | T/G | — | uncertain significance |
| rs374973001 | 3:65,607,721 | C/A | — | uncertain significance |
| rs570595605 | 3:65,607,727 | T/C | — | uncertain significance |
| rs143139340 | 3:65,607,736 | T/C | — | uncertain significance |
| rs768515454 | 3:65,736,279 | T/G | — | — |
| rs182075832 | 3:65,797,277 | G/A | regulatory region variant | — |
| rs1495448 | 3:65,810,914 | T/C | — | — |
| rs150772478 | 3:65,835,646 | G/A | intron variant | — |
| rs77700841 | 3:65,837,868 | G/C | regulatory region variant | — |
| rs367695439 | 3:66,023,683 | C/T | — | uncertain significance |
| rs760826615 | 3:66,023,692 | T/C | — | uncertain significance |
| rs759742640 | 3:66,023,709 | C/T | — | uncertain significance |
| rs1430086411 | 3:66,023,877 | G/C | — | uncertain significance |
| rs764775560 | 3:66,023,960 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.