FAP

fibroblast activation protein alpha

Summary

The protein encoded by this gene is a homodimeric integral membrane gelatinase belonging to the serine protease family. It is selectively expressed in reactive stromal fibroblasts of epithelial cancers, granulation tissue of healing wounds, and malignant cells of bone and soft tissue sarcomas. This protein is thought to be involved in the control of fibroblast growth or epithelial-mesenchymal interactions during development, tissue repair, and epithelial carcinogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]

Known Variants61 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2468717775	2:163,027,517	A/G	—	uncertain significance
rs769339096	2:163,027,538	T/A	—	uncertain significance
rs150790668	2:163,027,561	G/A	—	likely benign
rs765484957	2:163,027,569	C/T	—	uncertain significance
rs80245757	2:163,029,378	T/C	—	benign
rs779062673	2:163,029,671	C/T	—	uncertain significance
rs932508852	2:163,030,262	T/C	—	uncertain significance
rs1450977209	2:163,030,275	G/T	—	uncertain significance
rs193131228	2:163,031,484	G/T	—	benign
rs1308764926	2:163,039,956	T/C	—	uncertain significance
rs149046822	2:163,039,961	C/T	—	uncertain significance
rs756008025	2:163,044,748	T/C	—	uncertain significance
rs1478536034	2:163,044,812	G/C	—	uncertain significance
rs2468758575	2:163,044,842	A/G	—	uncertain significance
rs186468503	2:163,045,691	A/G	—	benign
rs201724480	2:163,046,232	C/T	—	uncertain significance
rs3788974	2:163,049,639	T/C	intron variant	—
rs62001030	2:163,055,295	G/A	—	benign
rs780875561	2:163,055,300	C/T	—	uncertain significance
rs947020008	2:163,055,312	C/T	—	uncertain significance
rs750844415	2:163,055,380	C/A	—	uncertain significance
rs758981922	2:163,057,077	T/C	—	uncertain significance
rs376800338	2:163,057,098	G/A	—	uncertain significance
rs2468795835	2:163,057,101	A/T	—	uncertain significance
rs753245457	2:163,059,413	T/C	—	uncertain significance
rs200942734	2:163,059,592	T/C	—	uncertain significance
rs188497221	2:163,067,896	C/T	intron variant	—
rs376781426	2:163,070,551	G/A	—	uncertain significance
rs4664454	2:163,071,161	C/G	intron variant	—
rs140779053	2:163,072,421	T/C	—	uncertain significance
rs373219307	2:163,072,487	G/A	—	uncertain significance
rs16846387	2:163,073,082	T/C	intron variant	—
rs150161783	2:163,074,554	G/A	—	uncertain significance
rs752301259	2:163,074,566	A/G	—	uncertain significance
rs755880907	2:163,074,567	T/C	—	uncertain significance
rs79793562	2:163,074,572	G/A	—	benign
rs62001031	2:163,074,624	G/A	—	benign
rs2468850863	2:163,074,632	T/C	—	uncertain significance
rs1436032237	2:163,074,643	C/A	—	uncertain significance
rs71424731	2:163,074,888	T/C	intron variant	—
rs76814605	2:163,075,595	T/G	—	benign
rs78722278	2:163,075,627	A/G	—	likely benign
rs754077446	2:163,075,671	A/C	—	uncertain significance
rs376459419	2:163,076,370	C/T	—	uncertain significance
rs138190509	2:163,076,409	G/A	—	uncertain significance
rs373002642	2:163,080,121	T/G	—	uncertain significance
rs78244369	2:163,081,036	A/G	—	benign
rs563343900	2:163,082,009	A/C	—	uncertain significance
rs1364518300	2:163,082,084	T/C	—	uncertain significance
rs2468877493	2:163,083,072	T/G	—	uncertain significance
rs959509233	2:163,083,113	T/C	—	likely benign
rs775291168	2:163,083,124	G/T	—	uncertain significance
rs193002336	2:163,083,137	G/T	—	benign
rs3788970	2:163,086,429	A/G	intron variant	—
rs77335736	2:163,089,866	C/A	—	—
rs79190884	2:163,090,533	G/T	intron variant	—
rs4664050	2:163,090,609	C/T	intron variant	—
rs79854652	2:163,095,279	C/T	intron variant	—
rs145562225	2:163,099,429	C/G	—	uncertain significance
rs368690170	2:163,099,430	G/C	—	uncertain significance
rs13422767	2:163,100,259	G/T	—	—

Gene information from NCBI Gene. Variant classifications from ClinVar.