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

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3751488	14:23,304,094	G/A	upstream gene variant	—
rs10132595	14:23,305,501	A/G	—	benign
rs1004030	14:23,305,649	C/T	—	benign
rs1003349	14:23,305,663	G/T	regulatory region variant	benign
rs17885183	14:23,305,983	G/C	—	benign
rs17882219	14:23,306,036	G/A	—	benign
rs1042703	14:23,306,048	C/T	—	benign
rs2502055627	14:23,306,051	C/A	—	uncertain significance
rs2502055629	14:23,306,052	G/A	—	uncertain significance
rs2502055671	14:23,306,062	G/C	—	likely benign
rs750574703	14:23,306,066	C/T	—	uncertain significance
rs587777039	14:23,306,076	C/G	missense variant	pathogenic
rs780367986	14:23,306,087	G/A	—	uncertain significance
rs927591335	14:23,306,088	C/T	—	uncertain significance
rs749088113	14:23,306,099	C/T	—	uncertain significance
rs2039736075	14:23,306,102	G/A	—	uncertain significance
rs1394631840	14:23,306,103	G/T	—	uncertain significance
rs950588038	14:23,306,107	G/C	—	likely benign
rs982803572	14:23,306,117	A/T	—	uncertain significance
rs2138732719	14:23,306,119	C/T	—	likely benign
rs765822049	14:23,306,150	G/C	—	likely benign
rs2138732803	14:23,306,154	C/A	—	likely benign
rs531618881	14:23,306,339	C/T	—	benign
rs541872659	14:23,306,342	C/A	—	benign
rs2269213	14:23,307,271	C/A	regulatory region variant	—
rs8006914	14:23,310,485	C/T	—	benign
rs767002012	14:23,310,682	A/G	—	likely benign
rs367583211	14:23,310,686	C/T	—	likely benign
rs139288377	14:23,310,700	G/C	—	likely benign
rs1276712940	14:23,310,714	A/G	—	likely benign
rs200095510	14:23,310,727	C/A	—	uncertain significance
rs35461486	14:23,310,732	C/T	—	likely benign
rs780006498	14:23,310,733	G/C	—	uncertain significance
rs1447695194	14:23,310,736	G/A	—	uncertain significance
rs890078571	14:23,310,743	G/A	—	uncertain significance
rs1566481346	14:23,310,751	A/C	—	uncertain significance
rs150854926	14:23,310,753	A/G	—	likely benign
rs368747631	14:23,310,756	G/A	—	likely benign
rs1595014148	14:23,310,762	A/G	—	likely benign
rs2502063006	14:23,310,769	T/C	—	uncertain significance
rs372396779	14:23,310,774	C/G	—	likely benign
rs139231227	14:23,310,776	C/T	—	uncertain significance
rs760061767	14:23,310,780	G/A	—	likely benign
rs1401887689	14:23,310,782	C/T	—	uncertain significance
rs372924469	14:23,310,786	C/T	—	likely benign
rs201672796	14:23,310,798	G/A	—	benign
rs2502063128	14:23,310,821	C/T	—	uncertain significance
rs777317862	14:23,310,835	G/A	—	uncertain significance
rs546238476	14:23,310,862	C/T	—	likely benign
rs2039773856	14:23,310,867	C/T	—	likely benign
rs57542488	14:23,311,044	T/C	—	benign
rs755599049	14:23,311,103	G/A	—	likely benign
rs2502063824	14:23,311,115	A/T	—	likely benign
rs373247395	14:23,311,129	A/G	—	uncertain significance
rs778695115	14:23,311,133	G/A	—	uncertain significance
rs1192457800	14:23,311,138	C/T	—	uncertain significance
rs772534496	14:23,311,158	G/A	—	likely benign
rs780457340	14:23,311,163	G/C	—	likely benign
rs147180062	14:23,311,167	T/A	—	likely benign
rs761880013	14:23,311,178	C/T	—	uncertain significance
rs368366856	14:23,311,182	T/C	—	likely benign
rs1284390443	14:23,311,196	G/A	—	pathogenic
rs140660438	14:23,311,201	G/A	—	uncertain significance
rs1254849829	14:23,311,226	A/G	—	uncertain significance
rs753455164	14:23,311,255	C/T	—	likely benign
rs17243048	14:23,311,480	G/A	—	benign
rs773440533	14:23,311,603	C/T	—	likely benign
rs371963061	14:23,311,614	C/T	—	likely benign
rs761440716	14:23,311,646	C/T	—	likely benign
rs954541590	14:23,311,672	G/A	—	uncertain significance
rs544049459	14:23,311,678	C/T	—	uncertain significance
rs781697049	14:23,311,679	G/A	—	likely benign
rs768334466	14:23,311,684	G/A	—	uncertain significance
rs189387225	14:23,311,686	G/A	—	uncertain significance
rs142628539	14:23,311,710	C/T	—	uncertain significance
rs768295586	14:23,311,711	G/A	—	uncertain significance
rs769434703	14:23,311,717	G/A	—	uncertain significance
rs529955416	14:23,311,718	C/T	—	likely benign
rs144960921	14:23,311,732	C/A	—	uncertain significance
rs759963384	14:23,311,740	C/T	—	uncertain significance
rs1276557075	14:23,311,743	G/A	—	uncertain significance
rs753203880	14:23,311,750	A/G	—	uncertain significance
rs1595014702	14:23,311,780	T/C	—	uncertain significance
rs1473138788	14:23,311,784	C/T	—	likely benign
rs757252435	14:23,311,785	G/A	—	uncertain significance
rs779226971	14:23,311,788	G/C	—	uncertain significance
rs768586381	14:23,311,799	C/G	—	likely benign
rs375371923	14:23,311,808	G/A	—	likely benign
rs368784954	14:23,311,826	C/T	—	likely benign
rs2502065171	14:23,311,832	C/T	—	likely benign
rs762568699	14:23,311,861	A/G	—	uncertain significance
rs1261229619	14:23,311,865	T/A	—	likely benign
rs2502065253	14:23,311,888	C/G	—	uncertain significance
rs371769574	14:23,311,892	C/T	—	benign
rs377219142	14:23,311,902	A/G	—	uncertain significance
rs757380549	14:23,311,903	C/T	—	uncertain significance
rs1157865119	14:23,311,925	T/C	—	uncertain significance
rs373490259	14:23,311,941	C/G	—	likely benign
rs1237607805	14:23,311,945	G/C	—	likely benign
rs17884962	14:23,311,946	G/A	—	benign

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

Gene information from NCBI Gene. Variant classifications from ClinVar.