MAML1
mastermind like transcriptional coactivator 1
Summary
This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq, Jul 2008]
Known Variants79 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1337967741 | 5:179,160,171 | A/G | — | uncertain significance |
| rs1225093857 | 5:179,160,274 | A/G | — | uncertain significance |
| rs1194195449 | 5:179,160,292 | A/C | — | uncertain significance |
| rs2533679746 | 5:179,160,304 | T/C | — | uncertain significance |
| rs1181039293 | 5:179,160,354 | A/C | — | likely benign |
| rs1214349263 | 5:179,160,364 | C/T | — | uncertain significance |
| rs1188277658 | 5:179,160,375 | C/A | — | uncertain significance |
| rs1779106010 | 5:179,160,382 | C/G | — | uncertain significance |
| rs61751563 | 5:179,160,402 | G/C | — | benign |
| rs761383058 | 5:179,160,426 | A/G | — | likely benign |
| rs17617068 | 5:179,168,097 | T/C | intron variant | — |
| rs6867806 | 5:179,179,585 | C/T | — | — |
| rs76025697 | 5:179,184,488 | G/A | intron variant | — |
| rs146593514 | 5:179,192,341 | A/G | — | likely benign |
| rs2533743664 | 5:179,192,352 | A/C | — | uncertain significance |
| rs1779796852 | 5:179,192,364 | C/T | — | uncertain significance |
| rs113715124 | 5:179,192,401 | C/T | — | likely benign |
| rs771321305 | 5:179,192,462 | T/C | — | uncertain significance |
| rs551874527 | 5:179,192,466 | C/G | — | uncertain significance |
| rs150744171 | 5:179,192,493 | T/G | — | uncertain significance |
| rs1455114049 | 5:179,192,505 | A/T | — | uncertain significance |
| rs113636707 | 5:179,192,580 | G/A | — | likely benign |
| rs139828482 | 5:179,192,622 | C/G | — | uncertain significance |
| rs146285187 | 5:179,192,674 | C/T | — | likely benign |
| rs1326489713 | 5:179,192,729 | C/T | — | uncertain significance |
| rs996292105 | 5:179,192,745 | A/G | — | uncertain significance |
| rs770519131 | 5:179,192,916 | T/G | — | uncertain significance |
| rs777862608 | 5:179,192,949 | G/T | — | uncertain significance |
| rs756666515 | 5:179,193,033 | T/A | — | uncertain significance |
| rs1371559817 | 5:179,193,053 | T/C | — | uncertain significance |
| rs994472392 | 5:179,193,120 | C/A | — | uncertain significance |
| rs751805778 | 5:179,193,149 | G/T | — | uncertain significance |
| rs193920768 | 5:179,193,174 | G/T | — | uncertain significance |
| rs1020270377 | 5:179,193,198 | C/T | — | uncertain significance |
| rs2533745853 | 5:179,193,244 | G/A | — | uncertain significance |
| rs141578236 | 5:179,193,270 | C/T | — | uncertain significance |
| rs72807320 | 5:179,193,323 | A/G | — | uncertain significance |
| rs557682663 | 5:179,193,363 | G/A | — | uncertain significance |
| rs61748799 | 5:179,193,385 | C/T | — | likely benign |
| rs200515773 | 5:179,193,441 | C/A | — | uncertain significance |
| rs779486348 | 5:179,193,443 | G/A | — | uncertain significance |
| rs754621552 | 5:179,193,453 | A/G | — | uncertain significance |
| rs991739885 | 5:179,193,507 | A/G | — | uncertain significance |
| rs201881355 | 5:179,193,518 | G/A | — | uncertain significance |
| rs145980075 | 5:179,193,548 | G/A | — | uncertain significance |
| rs749860957 | 5:179,193,597 | G/C | — | uncertain significance |
| rs376292928 | 5:179,193,618 | A/G | — | uncertain significance |
| rs373039830 | 5:179,193,672 | A/G | — | uncertain significance |
| rs749501403 | 5:179,195,899 | G/A | — | uncertain significance |
| rs755446770 | 5:179,195,975 | C/A | — | uncertain significance |
| rs1335241689 | 5:179,198,161 | T/A | — | uncertain significance |
| rs372297026 | 5:179,198,166 | C/T | — | uncertain significance |
| rs141105913 | 5:179,198,203 | C/T | — | uncertain significance |
| rs116011870 | 5:179,200,897 | G/A | — | benign |
| rs566832776 | 5:179,200,949 | T/C | — | uncertain significance |
| rs897216126 | 5:179,200,992 | G/A | — | uncertain significance |
| rs370222740 | 5:179,201,139 | C/T | — | uncertain significance |
| rs370378353 | 5:179,201,185 | C/G | — | uncertain significance |
| rs765205292 | 5:179,201,190 | G/A | — | uncertain significance |
| rs762585296 | 5:179,201,204 | G/A | — | uncertain significance |
| rs61753466 | 5:179,201,298 | C/T | — | likely benign |
| rs200197474 | 5:179,201,359 | G/T | — | uncertain significance |
| rs751462285 | 5:179,201,412 | C/A | — | uncertain significance |
| rs765727565 | 5:179,201,424 | T/A | — | uncertain significance |
| rs112241050 | 5:179,201,432 | C/A | — | uncertain significance |
| rs142835504 | 5:179,201,467 | A/T | — | uncertain significance |
| rs61748800 | 5:179,201,540 | C/G | — | benign |
| rs754075900 | 5:179,201,576 | C/G | — | uncertain significance |
| rs780117536 | 5:179,201,595 | C/T | — | uncertain significance |
| rs1756091808 | 5:179,201,611 | G/C | — | uncertain significance |
| rs776163566 | 5:179,201,643 | G/C | — | uncertain significance |
| rs775974618 | 5:179,201,648 | T/C | — | uncertain significance |
| rs2533763133 | 5:179,201,693 | C/T | — | uncertain significance |
| rs965168630 | 5:179,201,696 | T/C | — | uncertain significance |
| rs746302193 | 5:179,201,717 | C/T | — | uncertain significance |
| rs776719597 | 5:179,201,724 | C/T | — | uncertain significance |
| rs766211451 | 5:179,201,745 | C/T | — | uncertain significance |
| rs751419151 | 5:179,201,826 | G/A | — | uncertain significance |
| rs2533763694 | 5:179,201,864 | T/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.