MSLN
mesothelin
Summary
This gene encodes a preproprotein that is proteolytically processed to generate two protein products, megakaryocyte potentiating factor and mesothelin. Megakaryocyte potentiating factor functions as a cytokine that can stimulate colony formation of bone marrow megakaryocytes. Mesothelin is a glycosylphosphatidylinositol-anchored cell-surface protein that may function as a cell adhesion protein. This protein is overexpressed in epithelial mesotheliomas, ovarian cancers and in specific squamous cell carcinomas. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
Known Variants87 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs369087429 | 16:812,729 | G/A | — | likely benign |
| rs1466294207 | 16:813,244 | C/T | — | uncertain significance |
| rs200684663 | 16:813,260 | C/T | — | uncertain significance |
| rs748453506 | 16:813,649 | C/T | — | uncertain significance |
| rs138335766 | 16:814,069 | G/A | — | uncertain significance |
| rs762563817 | 16:814,079 | C/T | — | uncertain significance |
| rs756598368 | 16:814,081 | G/A | — | uncertain significance |
| rs141731036 | 16:814,085 | G/A | — | uncertain significance |
| rs74885235 | 16:814,649 | G/T | — | benign |
| rs147793202 | 16:814,954 | G/A | — | uncertain significance |
| rs368819585 | 16:814,960 | C/T | — | uncertain significance |
| rs747128206 | 16:814,995 | C/T | — | uncertain significance |
| rs1273887638 | 16:814,998 | G/A | — | uncertain significance |
| rs751900858 | 16:815,147 | G/A | — | likely benign |
| rs8062940 | 16:815,202 | C/T | — | benign |
| rs767982321 | 16:815,215 | C/A | — | uncertain significance |
| rs746914426 | 16:815,273 | C/G | — | uncertain significance |
| rs527803994 | 16:815,287 | G/A | — | uncertain significance |
| rs112840725 | 16:815,296 | C/T | — | uncertain significance |
| rs138296900 | 16:815,532 | C/T | — | uncertain significance |
| rs763130228 | 16:815,534 | T/C | — | uncertain significance |
| rs764327536 | 16:815,535 | C/T | — | uncertain significance |
| rs115279916 | 16:815,593 | G/C | — | benign |
| rs201359141 | 16:815,604 | G/C | — | uncertain significance |
| rs139851878 | 16:815,740 | G/A | — | likely benign |
| rs758864580 | 16:815,745 | C/G | — | uncertain significance |
| rs777863778 | 16:815,748 | G/A | — | uncertain significance |
| rs568680131 | 16:815,751 | C/A | — | benign |
| rs369346101 | 16:815,754 | A/C | — | uncertain significance |
| rs768490001 | 16:815,764 | G/C | — | uncertain significance |
| rs141280598 | 16:815,775 | C/T | — | uncertain significance |
| rs753029287 | 16:815,779 | G/A | — | uncertain significance |
| rs145858389 | 16:815,781 | G/A | — | uncertain significance |
| rs2544224780 | 16:816,062 | C/T | — | uncertain significance |
| rs3765320 | 16:816,072 | T/C | synonymous variant | — |
| rs17850474 | 16:816,089 | G/A | — | benign |
| rs2544224939 | 16:816,102 | G/T | — | uncertain significance |
| rs143275107 | 16:816,149 | C/T | — | benign |
| rs753038910 | 16:816,176 | G/A | — | uncertain significance |
| rs1295077979 | 16:816,229 | C/G | — | uncertain significance |
| rs1032332383 | 16:816,335 | C/T | — | uncertain significance |
| rs1335167528 | 16:816,342 | C/A | — | uncertain significance |
| rs752373558 | 16:816,356 | G/A | — | uncertain significance |
| rs766310445 | 16:816,410 | A/T | — | uncertain significance |
| rs747380787 | 16:816,413 | C/T | — | uncertain significance |
| rs577280893 | 16:816,425 | G/A | — | uncertain significance |
| rs751744116 | 16:816,651 | G/A | — | likely benign |
| rs143929261 | 16:816,683 | G/C | — | uncertain significance |
| rs186022569 | 16:816,686 | C/T | — | uncertain significance |
| rs759808436 | 16:816,696 | A/G | — | uncertain significance |
| rs1170163262 | 16:816,699 | G/C | — | uncertain significance |
| rs375255877 | 16:816,715 | C/A | — | uncertain significance |
| rs749126758 | 16:816,740 | G/A | — | likely benign |
| rs199983505 | 16:816,794 | C/A | — | uncertain significance |
| rs377287537 | 16:816,887 | C/T | — | uncertain significance |
| rs61741991 | 16:816,896 | C/T | — | uncertain significance |
| rs370543723 | 16:816,911 | C/T | — | uncertain significance |
| rs2544227544 | 16:816,944 | C/A | — | likely benign |
| rs557815875 | 16:816,970 | A/G | — | likely benign |
| rs35317722 | 16:816,973 | A/G | — | benign |
| rs2544228998 | 16:817,399 | A/G | — | uncertain significance |
| rs141340031 | 16:817,403 | C/T | — | uncertain significance |
| rs537678733 | 16:817,406 | T/C | — | uncertain significance |
| rs770818542 | 16:817,426 | A/G | — | uncertain significance |
| rs2544229140 | 16:817,436 | C/A | — | uncertain significance |
| rs201169888 | 16:817,439 | C/T | — | uncertain significance |
| rs760110597 | 16:817,449 | G/C | — | uncertain significance |
| rs138450065 | 16:818,380 | C/T | — | uncertain significance |
| rs149260184 | 16:818,381 | G/A | — | likely benign |
| rs144496772 | 16:818,421 | G/A | — | uncertain significance |
| rs1377427459 | 16:818,424 | G/A | — | uncertain significance |
| rs751177660 | 16:818,445 | C/T | — | uncertain significance |
| rs150425699 | 16:818,452 | G/A | — | benign |
| rs201466189 | 16:818,456 | G/A | — | likely benign |
| rs374380113 | 16:818,460 | C/T | — | uncertain significance |
| rs547730247 | 16:818,461 | G/A | — | uncertain significance |
| rs371641206 | 16:818,476 | G/A | — | uncertain significance |
| rs145273478 | 16:818,482 | G/A | missense variant | — |
| rs199813277 | 16:818,523 | G/A | — | uncertain significance |
| rs376120426 | 16:818,535 | G/A | — | uncertain significance |
| rs149124925 | 16:818,649 | G/C | — | uncertain significance |
| rs2544236976 | 16:818,653 | C/T | — | uncertain significance |
| rs141160926 | 16:818,687 | C/T | — | likely benign |
| rs74953641 | 16:818,698 | G/A | — | benign |
| rs995703996 | 16:818,702 | T/C | — | likely benign |
| rs1057147 | 16:818,802 | G/A | regulatory region variant | benign |
| rs57272256 | 16:818,807 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.