MMP14

matrix metallopeptidase 14

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. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [provided by RefSeq, Jul 2008]

Known Variants255 total

rsidPosition (GRCh37)AllelesClassClinVar
rs375148814:23,304,094G/Aupstream gene variant—
rs1013259514:23,305,501A/G—benign
rs100403014:23,305,649C/T—benign
rs100334914:23,305,663G/Tregulatory region variantbenign
rs1788518314:23,305,983G/C—benign
rs1788221914:23,306,036G/A—benign
rs104270314:23,306,048C/T—benign
rs250205562714:23,306,051C/A—uncertain significance
rs250205562914:23,306,052G/A—uncertain significance
rs250205567114:23,306,062G/C—likely benign
rs75057470314:23,306,066C/T—uncertain significance
rs58777703914:23,306,076C/Gmissense variantpathogenic
rs78036798614:23,306,087G/A—uncertain significance
rs92759133514:23,306,088C/T—uncertain significance
rs74908811314:23,306,099C/T—uncertain significance
rs203973607514:23,306,102G/A—uncertain significance
rs139463184014:23,306,103G/T—uncertain significance
rs95058803814:23,306,107G/C—likely benign
rs98280357214:23,306,117A/T—uncertain significance
rs213873271914:23,306,119C/T—likely benign
rs76582204914:23,306,150G/C—likely benign
rs213873280314:23,306,154C/A—likely benign
rs53161888114:23,306,339C/T—benign
rs54187265914:23,306,342C/A—benign
rs226921314:23,307,271C/Aregulatory region variant—
rs800691414:23,310,485C/T—benign
rs76700201214:23,310,682A/G—likely benign
rs36758321114:23,310,686C/T—likely benign
rs13928837714:23,310,700G/C—likely benign
rs127671294014:23,310,714A/G—likely benign
rs20009551014:23,310,727C/A—uncertain significance
rs3546148614:23,310,732C/T—likely benign
rs78000649814:23,310,733G/C—uncertain significance
rs144769519414:23,310,736G/A—uncertain significance
rs89007857114:23,310,743G/A—uncertain significance
rs156648134614:23,310,751A/C—uncertain significance
rs15085492614:23,310,753A/G—likely benign
rs36874763114:23,310,756G/A—likely benign
rs159501414814:23,310,762A/G—likely benign
rs250206300614:23,310,769T/C—uncertain significance
rs37239677914:23,310,774C/G—likely benign
rs13923122714:23,310,776C/T—uncertain significance
rs76006176714:23,310,780G/A—likely benign
rs140188768914:23,310,782C/T—uncertain significance
rs37292446914:23,310,786C/T—likely benign
rs20167279614:23,310,798G/A—benign
rs250206312814:23,310,821C/T—uncertain significance
rs77731786214:23,310,835G/A—uncertain significance
rs54623847614:23,310,862C/T—likely benign
rs203977385614:23,310,867C/T—likely benign
rs5754248814:23,311,044T/C—benign
rs75559904914:23,311,103G/A—likely benign
rs250206382414:23,311,115A/T—likely benign
rs37324739514:23,311,129A/G—uncertain significance
rs77869511514:23,311,133G/A—uncertain significance
rs119245780014:23,311,138C/T—uncertain significance
rs77253449614:23,311,158G/A—likely benign
rs78045734014:23,311,163G/C—likely benign
rs14718006214:23,311,167T/A—likely benign
rs76188001314:23,311,178C/T—uncertain significance
rs36836685614:23,311,182T/C—likely benign
rs128439044314:23,311,196G/A—pathogenic
rs14066043814:23,311,201G/A—uncertain significance
rs125484982914:23,311,226A/G—uncertain significance
rs75345516414:23,311,255C/T—likely benign
rs1724304814:23,311,480G/A—benign
rs77344053314:23,311,603C/T—likely benign
rs37196306114:23,311,614C/T—likely benign
rs76144071614:23,311,646C/T—likely benign
rs95454159014:23,311,672G/A—uncertain significance
rs54404945914:23,311,678C/T—uncertain significance
rs78169704914:23,311,679G/A—likely benign
rs76833446614:23,311,684G/A—uncertain significance
rs18938722514:23,311,686G/A—uncertain significance
rs14262853914:23,311,710C/T—uncertain significance
rs76829558614:23,311,711G/A—uncertain significance
rs76943470314:23,311,717G/A—uncertain significance
rs52995541614:23,311,718C/T—likely benign
rs14496092114:23,311,732C/A—uncertain significance
rs75996338414:23,311,740C/T—uncertain significance
rs127655707514:23,311,743G/A—uncertain significance
rs75320388014:23,311,750A/G—uncertain significance
rs159501470214:23,311,780T/C—uncertain significance
rs147313878814:23,311,784C/T—likely benign
rs75725243514:23,311,785G/A—uncertain significance
rs77922697114:23,311,788G/C—uncertain significance
rs76858638114:23,311,799C/G—likely benign
rs37537192314:23,311,808G/A—likely benign
rs36878495414:23,311,826C/T—likely benign
rs250206517114:23,311,832C/T—likely benign
rs76256869914:23,311,861A/G—uncertain significance
rs126122961914:23,311,865T/A—likely benign
rs250206525314:23,311,888C/G—uncertain significance
rs37176957414:23,311,892C/T—benign
rs37721914214:23,311,902A/G—uncertain significance
rs75738054914:23,311,903C/T—uncertain significance
rs115786511914:23,311,925T/C—uncertain significance
rs37349025914:23,311,941C/G—likely benign
rs123760780514:23,311,945G/C—likely benign
rs1788496214:23,311,946G/A—benign

Showing 100 of 255 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.