MST1R
macrophage stimulating 1 receptor
Summary
This gene encodes a cell surface receptor for macrophage-stimulating protein (MSP) with tyrosine kinase activity. The mature form of this protein is a heterodimer of disulfide-linked alpha and beta subunits, generated by proteolytic cleavage of a single-chain precursor. The beta subunit undergoes tyrosine phosphorylation upon stimulation by MSP. This protein is expressed on the ciliated epithelia of the mucociliary transport apparatus of the lung, and together with MSP, thought to be involved in host defense. Alternative splicing generates multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]
Known Variants111 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs533872004 | 3:49,924,772 | G/A | — | uncertain significance |
| rs137882771 | 3:49,924,789 | C/A | — | uncertain significance |
| rs754447593 | 3:49,924,802 | A/G | — | likely benign |
| rs368400291 | 3:49,924,814 | G/A | — | uncertain significance |
| rs779416241 | 3:49,924,901 | G/T | — | uncertain significance |
| rs1062633 | 3:49,924,940 | T/C | — | benign |
| rs5030975 | 3:49,924,947 | G/A | — | benign |
| rs373976686 | 3:49,927,390 | C/T | — | uncertain significance |
| rs528985327 | 3:49,927,394 | G/A | — | uncertain significance |
| rs12489386 | 3:49,927,503 | G/T | — | benign |
| rs539807742 | 3:49,927,964 | G/A | — | uncertain significance |
| rs144565670 | 3:49,927,979 | G/A | — | uncertain significance |
| rs1035118897 | 3:49,927,985 | C/T | — | uncertain significance |
| rs750667546 | 3:49,928,009 | C/G | — | uncertain significance |
| rs1449563443 | 3:49,928,034 | C/T | — | uncertain significance |
| rs55968312 | 3:49,928,035 | G/A | — | benign |
| rs199869962 | 3:49,928,036 | C/T | — | uncertain significance |
| rs149920380 | 3:49,928,694 | G/A | — | uncertain significance |
| rs2545085870 | 3:49,928,696 | G/A | — | uncertain significance |
| rs878910700 | 3:49,928,834 | G/A | — | uncertain significance |
| rs775857732 | 3:49,928,845 | C/T | — | uncertain significance |
| rs776678200 | 3:49,928,854 | T/C | — | uncertain significance |
| rs2082312347 | 3:49,928,878 | T/C | — | uncertain significance |
| rs757765023 | 3:49,928,918 | T/C | — | likely benign |
| rs779231981 | 3:49,928,990 | C/T | — | uncertain significance |
| rs55643042 | 3:49,929,025 | C/T | intron variant | — |
| rs147999292 | 3:49,929,220 | C/A | — | uncertain significance |
| rs6795703 | 3:49,930,215 | C/T | intron variant | — |
| rs9815930 | 3:49,931,343 | A/T | intron variant | — |
| rs111226181 | 3:49,931,760 | G/C | — | — |
| rs748943477 | 3:49,932,714 | G/A | — | uncertain significance |
| rs755900041 | 3:49,932,722 | G/A | — | uncertain significance |
| rs2545148425 | 3:49,932,742 | A/G | — | likely benign |
| rs1575435086 | 3:49,932,751 | G/C | — | uncertain significance |
| rs2108431478 | 3:49,932,758 | G/A | — | uncertain significance |
| rs756762750 | 3:49,932,789 | C/T | — | uncertain significance |
| rs769083705 | 3:49,932,794 | A/G | — | likely benign |
| rs750752822 | 3:49,933,270 | C/G | — | uncertain significance |
| rs199970256 | 3:49,933,271 | G/A | — | likely benign |
| rs777650286 | 3:49,933,411 | C/T | — | uncertain significance |
| rs2082458508 | 3:49,933,455 | T/A | — | uncertain significance |
| rs540237920 | 3:49,933,460 | C/T | — | benign |
| rs201953002 | 3:49,933,461 | C/T | — | benign |
| rs368644133 | 3:49,933,462 | G/A | — | uncertain significance |
| rs372578503 | 3:49,933,468 | C/T | — | uncertain significance |
| rs41291714 | 3:49,933,724 | G/C | — | likely benign |
| rs369034266 | 3:49,933,725 | C/G | — | uncertain significance |
| rs758405523 | 3:49,933,793 | T/G | — | uncertain significance |
| rs766366511 | 3:49,933,795 | C/T | — | uncertain significance |
| rs375573917 | 3:49,933,813 | G/C | — | likely benign |
| rs568328214 | 3:49,933,834 | C/G | — | likely benign |
| rs528906916 | 3:49,933,996 | C/T | — | uncertain significance |
| rs544189568 | 3:49,933,997 | G/A | — | likely benign |
| rs562678926 | 3:49,934,054 | G/A | — | likely benign |
| rs149428633 | 3:49,934,174 | T/G | — | likely benign |
| rs375227799 | 3:49,934,241 | C/T | — | uncertain significance |
| rs773899277 | 3:49,934,754 | G/C | — | uncertain significance |
| rs61734381 | 3:49,934,828 | G/A | — | likely benign |
| rs1309171612 | 3:49,935,036 | C/T | — | likely benign |
| rs2545210181 | 3:49,935,113 | A/G | — | uncertain significance |
| rs147926223 | 3:49,935,495 | G/C | — | likely benign |
| rs9819888 | 3:49,935,503 | T/A | — | likely benign |
| rs372059299 | 3:49,935,514 | C/T | — | uncertain significance |
| rs35986685 | 3:49,935,526 | T/G | — | benign |
| rs56273948 | 3:49,935,537 | G/A | — | benign |
| rs371643033 | 3:49,935,544 | T/G | — | uncertain significance |
| rs200292266 | 3:49,935,550 | C/T | — | uncertain significance |
| rs1292386964 | 3:49,935,580 | T/C | — | uncertain significance |
| rs1229410123 | 3:49,935,589 | G/C | — | uncertain significance |
| rs779808712 | 3:49,936,066 | C/T | — | uncertain significance |
| rs973840829 | 3:49,936,087 | C/A | — | uncertain significance |
| rs2230590 | 3:49,936,102 | T/C | — | benign |
| rs141097970 | 3:49,936,103 | G/C | — | uncertain significance |
| rs1202305542 | 3:49,936,332 | C/T | — | uncertain significance |
| rs755080567 | 3:49,936,349 | C/T | — | uncertain significance |
| rs767408780 | 3:49,936,350 | G/A | — | uncertain significance |
| rs55898810 | 3:49,936,360 | C/T | — | benign |
| rs1575446356 | 3:49,936,371 | C/A | — | likely pathogenic |
| rs143816851 | 3:49,936,562 | G/T | — | likely benign |
| rs2230592 | 3:49,936,608 | T/C | — | benign |
| rs200724473 | 3:49,936,623 | C/T | — | uncertain significance |
| rs2230591 | 3:49,936,626 | G/A | — | benign |
| rs138579438 | 3:49,939,814 | G/A | — | benign |
| rs371024286 | 3:49,939,835 | G/A | — | likely benign |
| rs1226874518 | 3:49,939,882 | T/G | — | uncertain significance |
| rs199531010 | 3:49,939,993 | A/T | — | uncertain significance |
| rs745645623 | 3:49,940,000 | C/T | — | uncertain significance |
| rs2545306083 | 3:49,940,048 | T/G | — | uncertain significance |
| rs200757776 | 3:49,940,064 | C/T | — | uncertain significance |
| rs2230593 | 3:49,940,078 | T/C | — | benign |
| rs779887853 | 3:49,940,090 | T/G | — | uncertain significance |
| rs150736542 | 3:49,940,117 | C/T | — | uncertain significance |
| rs200046052 | 3:49,940,126 | C/T | — | risk factor |
| rs1165918613 | 3:49,940,148 | C/G | — | uncertain significance |
| rs563414275 | 3:49,940,190 | C/T | — | uncertain significance |
| rs200038223 | 3:49,940,218 | G/A | — | likely benign |
| rs909064438 | 3:49,940,324 | T/A | — | uncertain significance |
| rs2082739946 | 3:49,940,417 | G/T | — | uncertain significance |
| rs771183521 | 3:49,940,462 | G/T | — | uncertain significance |
| rs2545324714 | 3:49,940,471 | T/C | — | uncertain significance |
Showing 100 of 111 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.