MTMR9
myotubularin related protein 9
Summary
This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. [provided by RefSeq, Jul 2008]
Known Variants55 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs143537669 | 8:11,142,456 | C/A | — | uncertain significance |
| rs369654482 | 8:11,142,510 | T/C | — | uncertain significance |
| rs1192533821 | 8:11,142,566 | G/A | — | uncertain significance |
| rs200170336 | 8:11,144,199 | A/T | — | — |
| rs759875697 | 8:11,152,755 | A/T | — | uncertain significance |
| rs2486106054 | 8:11,152,803 | T/A | — | uncertain significance |
| rs372215706 | 8:11,157,539 | C/T | — | uncertain significance |
| rs1400126061 | 8:11,157,544 | C/G | — | uncertain significance |
| rs772183374 | 8:11,157,547 | G/C | — | uncertain significance |
| rs765116351 | 8:11,157,568 | C/G | — | uncertain significance |
| rs773323583 | 8:11,157,581 | G/A | — | uncertain significance |
| rs777793737 | 8:11,157,596 | T/G | — | uncertain significance |
| rs759531787 | 8:11,157,605 | A/G | — | uncertain significance |
| rs547127211 | 8:11,157,614 | A/G | — | uncertain significance |
| rs116655282 | 8:11,157,617 | C/G | — | benign |
| rs761536304 | 8:11,157,647 | A/C | — | uncertain significance |
| rs2736389 | 8:11,161,310 | C/A | intron variant | — |
| rs751903514 | 8:11,162,357 | A/C | — | uncertain significance |
| rs139991418 | 8:11,162,372 | A/C | — | uncertain significance |
| rs145333696 | 8:11,162,392 | G/A | — | uncertain significance |
| rs558748030 | 8:11,162,398 | C/G | — | likely benign |
| rs149073098 | 8:11,162,477 | G/A | — | uncertain significance |
| rs2164272 | 8:11,162,496 | A/C | — | benign |
| rs137901400 | 8:11,163,759 | G/C | — | uncertain significance |
| rs770330343 | 8:11,163,817 | G/A | — | uncertain significance |
| rs749590205 | 8:11,163,820 | C/G | — | uncertain significance |
| rs768454175 | 8:11,167,095 | A/G | — | uncertain significance |
| rs2486149630 | 8:11,167,115 | A/G | — | uncertain significance |
| rs200081429 | 8:11,167,134 | A/G | — | uncertain significance |
| rs780101177 | 8:11,167,166 | A/G | — | likely benign |
| rs2164273 | 8:11,168,499 | A/T | — | — |
| rs113268086 | 8:11,172,477 | C/T | — | benign |
| rs147925709 | 8:11,172,487 | G/A | — | uncertain significance |
| rs139630635 | 8:11,172,536 | G/C | — | likely benign |
| rs143346877 | 8:11,172,568 | C/A | — | uncertain significance |
| rs753928498 | 8:11,174,221 | T/A | — | uncertain significance |
| rs1452054196 | 8:11,174,272 | G/T | — | uncertain significance |
| rs940735241 | 8:11,174,307 | T/G | — | uncertain significance |
| rs2486170578 | 8:11,174,326 | A/G | — | uncertain significance |
| rs768339769 | 8:11,174,362 | T/C | — | uncertain significance |
| rs773907957 | 8:11,174,367 | G/C | — | uncertain significance |
| rs2572397 | 8:11,176,403 | G/T | coding sequence variant | — |
| rs1800584815 | 8:11,177,208 | G/C | — | uncertain significance |
| rs147083766 | 8:11,177,252 | C/G | — | uncertain significance |
| rs1800587905 | 8:11,177,256 | T/G | — | uncertain significance |
| rs562281134 | 8:11,177,297 | A/G | — | uncertain significance |
| rs754839909 | 8:11,177,323 | C/G | — | uncertain significance |
| rs2293855 | 8:11,177,410 | G/A | coding sequence variant | — |
| rs576428335 | 8:11,180,202 | A/G | — | uncertain significance |
| rs749228347 | 8:11,180,239 | T/G | — | uncertain significance |
| rs765869221 | 8:11,180,252 | G/T | — | uncertain significance |
| rs896890040 | 8:11,180,275 | A/T | — | uncertain significance |
| rs74800008 | 8:11,180,288 | G/C | — | benign |
| rs267601725 | 8:11,180,292 | C/T | — | uncertain significance |
| rs2736268 | 8:11,188,532 | G/C | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.