MTMR7
myotubularin related protein 7
Summary
This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009]
Known Variants60 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs370812641 | 8:17,157,388 | C/G | — | uncertain significance |
| rs1816994959 | 8:17,157,409 | C/A | — | uncertain significance |
| rs2487200325 | 8:17,157,423 | T/G | — | uncertain significance |
| rs752434200 | 8:17,157,456 | C/G | — | uncertain significance |
| rs368505826 | 8:17,157,457 | G/A | — | uncertain significance |
| rs760329234 | 8:17,157,603 | C/T | — | uncertain significance |
| rs145244130 | 8:17,157,605 | A/C | — | likely benign |
| rs762156336 | 8:17,157,618 | G/T | — | uncertain significance |
| rs751656595 | 8:17,157,690 | A/G | — | uncertain significance |
| rs148830623 | 8:17,157,724 | T/C | — | uncertain significance |
| rs767059408 | 8:17,159,668 | C/G | — | uncertain significance |
| rs1004380602 | 8:17,159,679 | A/C | — | uncertain significance |
| rs776791101 | 8:17,159,713 | C/T | — | uncertain significance |
| rs117739013 | 8:17,159,718 | A/G | — | likely benign |
| rs766971895 | 8:17,159,747 | C/A | — | uncertain significance |
| rs200135634 | 8:17,159,767 | G/A | — | uncertain significance |
| rs746315870 | 8:17,161,894 | A/G | — | uncertain significance |
| rs2487248255 | 8:17,161,970 | G/C | — | uncertain significance |
| rs201455556 | 8:17,163,359 | T/C | — | uncertain significance |
| rs988561243 | 8:17,163,422 | A/G | — | uncertain significance |
| rs762977989 | 8:17,163,433 | G/A | — | likely benign |
| rs144206696 | 8:17,163,465 | A/T | — | uncertain significance |
| rs148482221 | 8:17,169,021 | A/G | — | uncertain significance |
| rs147637471 | 8:17,169,039 | C/T | — | uncertain significance |
| rs140535945 | 8:17,169,085 | C/T | — | likely benign |
| rs779168989 | 8:17,170,826 | A/G | — | uncertain significance |
| rs2487324984 | 8:17,170,902 | G/A | — | uncertain significance |
| rs753871023 | 8:17,188,665 | G/C | — | uncertain significance |
| rs2487441772 | 8:17,188,703 | T/G | — | uncertain significance |
| rs11203842 | 8:17,196,960 | G/A | intron variant | — |
| rs1415864821 | 8:17,198,882 | G/A | — | uncertain significance |
| rs2487474521 | 8:17,198,904 | C/T | — | uncertain significance |
| rs753104590 | 8:17,198,913 | G/C | — | uncertain significance |
| rs140788515 | 8:17,198,915 | T/C | — | uncertain significance |
| rs4921542 | 8:17,205,577 | T/G | intron variant | — |
| rs148115774 | 8:17,206,464 | G/A | — | uncertain significance |
| rs769062524 | 8:17,206,488 | G/A | — | uncertain significance |
| rs748566130 | 8:17,206,491 | C/T | — | uncertain significance |
| rs141867103 | 8:17,206,533 | T/C | — | uncertain significance |
| rs200093307 | 8:17,206,550 | G/A | — | uncertain significance |
| rs779278498 | 8:17,218,627 | C/T | — | uncertain significance |
| rs201283564 | 8:17,218,660 | T/C | — | uncertain significance |
| rs528716283 | 8:17,218,682 | G/A | — | uncertain significance |
| rs750841490 | 8:17,218,696 | C/T | — | uncertain significance |
| rs998927344 | 8:17,218,744 | A/G | — | uncertain significance |
| rs1375401228 | 8:17,228,552 | T/C | — | uncertain significance |
| rs151245844 | 8:17,228,571 | G/C | — | uncertain significance |
| rs527918462 | 8:17,228,582 | C/T | — | uncertain significance |
| rs373368777 | 8:17,228,606 | T/A | — | uncertain significance |
| rs1409970682 | 8:17,228,620 | A/T | — | uncertain significance |
| rs2487547088 | 8:17,228,630 | T/C | — | uncertain significance |
| rs1365296771 | 8:17,228,687 | T/C | — | uncertain significance |
| rs140825852 | 8:17,228,689 | G/C | — | uncertain significance |
| rs375566255 | 8:17,228,694 | C/G | — | uncertain significance |
| rs763905684 | 8:17,230,629 | A/G | — | uncertain significance |
| rs758357915 | 8:17,230,694 | G/C | — | uncertain significance |
| rs180824276 | 8:17,230,755 | G/T | — | benign |
| rs538116418 | 8:17,265,028 | T/C | — | — |
| rs754175709 | 8:17,270,788 | C/G | — | uncertain significance |
| rs541247538 | 8:17,270,811 | A/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.