MARK2
microtubule affinity regulating kinase 2
Summary
This gene encodes a member of the Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stability of microtubules through phosphorylation and inactivation of several microtubule-associating proteins. The protein localizes to cell membranes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7939351 | 11:63,616,054 | G/T | — | — |
| rs10751002 | 11:63,617,634 | T/G | intron variant | — |
| rs535744882 | 11:63,628,158 | G/T | — | — |
| rs10792422 | 11:63,632,673 | G/T | intron variant | — |
| rs754439000 | 11:63,662,626 | C/T | — | likely benign |
| rs141830377 | 11:63,662,724 | A/G | — | uncertain significance |
| rs760780052 | 11:63,662,732 | C/G | — | uncertain significance |
| rs868032104 | 11:63,662,787 | C/T | — | pathogenic |
| rs2539306245 | 11:63,663,050 | A/G | — | likely pathogenic |
| rs2539306253 | 11:63,663,056 | C/T | — | pathogenic |
| rs760324570 | 11:63,663,081 | A/G | — | likely benign |
| rs2539313698 | 11:63,665,753 | G/T | — | pathogenic |
| rs184514302 | 11:63,665,760 | C/G | — | likely benign |
| rs1481250883 | 11:63,666,140 | G/A | — | uncertain significance |
| rs2539315343 | 11:63,666,145 | G/A | — | likely pathogenic |
| rs2539315773 | 11:63,666,233 | A/C | — | uncertain significance |
| rs2135335880 | 11:63,666,234 | G/A | — | likely benign |
| rs1387170272 | 11:63,666,288 | C/T | — | uncertain significance |
| rs12099085 | 11:63,666,944 | C/T | intron variant | — |
| rs1940729976 | 11:63,667,395 | T/C | — | uncertain significance |
| rs2539319606 | 11:63,667,571 | C/T | — | pathogenic |
| rs1590686402 | 11:63,668,045 | G/C | — | likely benign |
| rs1468332923 | 11:63,668,267 | C/T | — | uncertain significance |
| rs199684279 | 11:63,668,268 | G/A | — | uncertain significance |
| rs191213688 | 11:63,668,287 | C/T | — | benign |
| rs2539322573 | 11:63,668,428 | G/A | — | pathogenic |
| rs373352515 | 11:63,668,437 | G/A | — | uncertain significance |
| rs1940823816 | 11:63,668,542 | G/A | — | pathogenic |
| rs367599531 | 11:63,669,719 | C/A | — | uncertain significance |
| rs1057177 | 11:63,669,734 | C/T | — | uncertain significance |
| rs761752661 | 11:63,669,752 | T/C | — | uncertain significance |
| rs538928060 | 11:63,670,132 | G/A | — | uncertain significance |
| rs56291692 | 11:63,670,215 | C/A | — | benign |
| rs2539330444 | 11:63,670,632 | T/G | — | likely pathogenic |
| rs779235042 | 11:63,671,487 | C/T | — | uncertain significance |
| rs759996073 | 11:63,671,507 | G/C | — | uncertain significance |
| rs2539333013 | 11:63,671,510 | T/A | — | uncertain significance |
| rs1941125744 | 11:63,671,582 | C/T | — | uncertain significance |
| rs746404079 | 11:63,672,295 | G/A | — | uncertain significance |
| rs1414179596 | 11:63,672,323 | C/G | — | uncertain significance |
| rs1941197590 | 11:63,672,331 | C/T | — | pathogenic |
| rs151049341 | 11:63,672,479 | G/A | — | uncertain significance |
| rs750480856 | 11:63,672,512 | G/T | — | uncertain significance |
| rs2539336006 | 11:63,672,516 | G/A | — | likely pathogenic |
| rs1369701108 | 11:63,675,760 | C/T | — | likely pathogenic |
| rs55767673 | 11:63,675,772 | C/T | — | uncertain significance |
| rs2539349764 | 11:63,676,365 | A/G | — | likely benign |
| rs568393922 | 11:63,676,513 | A/C | — | uncertain significance |
| rs320106 | 11:63,676,517 | C/T | — | benign |
| rs320107 | 11:63,676,562 | G/A | — | benign |
| rs1212591677 | 11:63,676,572 | G/A | — | likely benign |
| rs2539350467 | 11:63,676,581 | C/T | — | pathogenic |
| rs2539350502 | 11:63,676,597 | T/C | — | likely pathogenic |
| rs2539350612 | 11:63,676,633 | G/C | — | likely pathogenic |
| rs764981503 | 11:63,676,703 | G/T | — | uncertain significance |
| rs538278494 | 11:63,678,382 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.