MPP3
MAGUK p55 scaffold protein 3
Summary
This gene product is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. This protein contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesn't encode a protein. [provided by RefSeq, Jul 2008]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs8077889 | 17:41,878,166 | A/C | downstream gene variant | — |
| rs188821458 | 17:41,879,156 | A/T | — | uncertain significance |
| rs574639263 | 17:41,879,199 | C/T | — | likely benign |
| rs966675000 | 17:41,879,212 | C/T | — | uncertain significance |
| rs765209252 | 17:41,879,244 | T/C | — | uncertain significance |
| rs2508764753 | 17:41,886,362 | G/A | — | uncertain significance |
| rs773965295 | 17:41,886,409 | T/C | — | uncertain significance |
| rs955167874 | 17:41,888,526 | G/A | — | uncertain significance |
| rs200261956 | 17:41,891,391 | C/T | — | uncertain significance |
| rs368183766 | 17:41,891,580 | G/C | — | uncertain significance |
| rs770469551 | 17:41,891,609 | T/C | — | uncertain significance |
| rs567378197 | 17:41,892,812 | T/A | — | — |
| rs1000044590 | 17:41,895,417 | G/T | — | uncertain significance |
| rs202221963 | 17:41,895,435 | G/T | — | uncertain significance |
| rs774859790 | 17:41,895,449 | G/T | — | uncertain significance |
| rs752487627 | 17:41,898,336 | C/T | — | uncertain significance |
| rs373681606 | 17:41,898,344 | C/T | — | uncertain significance |
| rs8065043 | 17:41,900,984 | G/A | intron variant | — |
| rs2045578642 | 17:41,901,312 | A/G | — | uncertain significance |
| rs72836549 | 17:41,904,360 | G/A | — | — |
| rs1396297960 | 17:41,905,126 | G/C | — | uncertain significance |
| rs750670179 | 17:41,907,077 | T/C | — | uncertain significance |
| rs2240008 | 17:41,907,079 | C/T | synonymous variant | — |
| rs376007699 | 17:41,907,084 | C/T | — | uncertain significance |
| rs2045876210 | 17:41,907,124 | C/A | — | uncertain significance |
| rs60335331 | 17:41,907,509 | A/G | intron variant | — |
| rs761128961 | 17:41,908,945 | G/T | — | uncertain significance |
| rs202014804 | 17:41,908,988 | T/C | — | uncertain significance |
| rs373711561 | 17:41,908,990 | G/C | — | uncertain significance |
| rs2508895476 | 17:41,908,995 | T/C | — | uncertain significance |
| rs28694735 | 17:41,912,144 | A/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.