MMP27
matrix metallopeptidase 27
Summary
Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. [provided by RefSeq, Jul 2008]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs533615371 | 11:102,562,574 | T/C | — | uncertain significance |
| rs200981413 | 11:102,562,666 | C/T | — | likely benign |
| rs773337936 | 11:102,562,675 | C/T | — | uncertain significance |
| rs911577139 | 11:102,562,686 | C/G | — | uncertain significance |
| rs761387802 | 11:102,562,710 | T/G | — | uncertain significance |
| rs145824422 | 11:102,562,723 | C/T | — | uncertain significance |
| rs1860734925 | 11:102,562,741 | C/T | — | uncertain significance |
| rs2496297747 | 11:102,563,670 | T/A | — | uncertain significance |
| rs199715080 | 11:102,563,699 | T/A | — | uncertain significance |
| rs2496298081 | 11:102,563,714 | A/G | — | uncertain significance |
| rs753739043 | 11:102,563,735 | G/A | — | uncertain significance |
| rs200611011 | 11:102,563,750 | T/C | — | uncertain significance |
| rs1260401032 | 11:102,564,646 | C/A | — | uncertain significance |
| rs1221499476 | 11:102,564,655 | A/G | — | uncertain significance |
| rs148262857 | 11:102,564,660 | G/C | — | uncertain significance |
| rs547506388 | 11:102,564,664 | T/C | — | uncertain significance |
| rs2496302573 | 11:102,564,703 | A/G | — | uncertain significance |
| rs2496303429 | 11:102,564,772 | C/T | — | uncertain significance |
| rs138043626 | 11:102,564,773 | C/G | — | uncertain significance |
| rs200289555 | 11:102,565,760 | G/C | — | uncertain significance |
| rs780730455 | 11:102,565,828 | C/A | — | uncertain significance |
| rs139765501 | 11:102,566,642 | A/G | intron variant | — |
| rs148789705 | 11:102,567,112 | A/G | — | uncertain significance |
| rs567330519 | 11:102,567,130 | G/A | — | uncertain significance |
| rs199882729 | 11:102,567,150 | A/G | — | uncertain significance |
| rs199497526 | 11:102,567,411 | T/C | — | uncertain significance |
| rs373779921 | 11:102,567,425 | T/C | — | likely benign |
| rs202129737 | 11:102,567,468 | A/G | — | uncertain significance |
| rs1407383824 | 11:102,567,554 | A/G | — | uncertain significance |
| rs4121468 | 11:102,570,548 | G/T | — | — |
| rs2846701 | 11:102,571,814 | G/T | — | — |
| rs540607008 | 11:102,573,501 | C/A | — | uncertain significance |
| rs1397792410 | 11:102,573,519 | A/T | — | uncertain significance |
| rs201848880 | 11:102,573,543 | G/A | — | likely benign |
| rs1367180100 | 11:102,573,549 | G/T | — | uncertain significance |
| rs774942932 | 11:102,573,564 | C/G | — | uncertain significance |
| rs759821103 | 11:102,573,594 | C/T | — | uncertain significance |
| rs1860969892 | 11:102,573,609 | T/C | — | uncertain significance |
| rs887710971 | 11:102,573,748 | T/C | — | uncertain significance |
| rs2496333830 | 11:102,573,769 | A/T | — | uncertain significance |
| rs2496334535 | 11:102,573,848 | T/A | — | uncertain significance |
| rs368839880 | 11:102,575,279 | G/T | — | uncertain significance |
| rs775981745 | 11:102,575,392 | T/C | — | uncertain significance |
| rs150709764 | 11:102,575,407 | C/T | — | uncertain significance |
| rs139015378 | 11:102,575,416 | C/T | — | uncertain significance |
| rs910609427 | 11:102,575,469 | C/T | — | uncertain significance |
| rs374776742 | 11:102,576,385 | C/G | — | uncertain significance |
| rs147720824 | 11:102,576,391 | G/A | — | uncertain significance |
| rs368255009 | 11:102,576,412 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.