PEX2

peroxisomal biogenesis factor 2

Summary

This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

Known Variants377 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs751974703	8:77,892,524	A/G	—	uncertain significance
rs569387185	8:77,892,603	A/G	—	uncertain significance
rs886063123	8:77,892,710	C/T	—	uncertain significance
rs1806788065	8:77,892,797	C/A	—	uncertain significance
rs28435921	8:77,892,834	T/A	—	benign
rs116215385	8:77,892,943	C/T	—	benign
rs1005895700	8:77,892,978	C/T	—	uncertain significance
rs886063124	8:77,892,979	G/A	—	uncertain significance
rs886063125	8:77,893,031	T/C	—	uncertain significance
rs1461205423	8:77,893,041	G/A	—	uncertain significance
rs73242165	8:77,893,051	G/A	—	benign
rs76770837	8:77,893,054	T/C	—	likely benign
rs886063126	8:77,893,067	A/G	—	uncertain significance
rs1806798109	8:77,893,093	T/C	—	uncertain significance
rs4388434	8:77,893,120	T/C	—	benign
rs56231626	8:77,893,159	G/A	—	benign
rs59296540	8:77,893,191	T/C	—	benign
rs763651452	8:77,893,203	G/C	—	uncertain significance
rs79700176	8:77,893,355	T/C	—	benign
rs568202276	8:77,893,440	C/T	—	uncertain significance
rs558850392	8:77,893,490	T/A	—	uncertain significance
rs117344716	8:77,893,493	G/A	—	likely benign
rs112352942	8:77,893,588	A/C	—	benign
rs777834563	8:77,893,639	C/T	—	uncertain significance
rs886063127	8:77,893,643	T/G	—	uncertain significance
rs184573256	8:77,893,655	C/G	—	likely benign
rs886063128	8:77,893,686	G/A	—	uncertain significance
rs980881594	8:77,893,689	G/T	—	uncertain significance
rs60300869	8:77,893,732	C/T	—	likely benign
rs886063129	8:77,893,742	T/C	—	uncertain significance
rs556984036	8:77,893,748	T/A	—	uncertain significance
rs192555214	8:77,893,781	T/C	—	uncertain significance
rs112199677	8:77,893,801	G/A	—	benign
rs1276104967	8:77,893,891	A/C	—	uncertain significance
rs557330187	8:77,893,895	T/C	—	uncertain significance
rs116949534	8:77,893,896	A/T	—	benign
rs1214852177	8:77,893,916	A/T	—	uncertain significance
rs886063130	8:77,893,936	C/T	—	uncertain significance
rs184740361	8:77,894,049	G/A	—	likely benign
rs1002618013	8:77,894,097	T/C	—	uncertain significance
rs886063131	8:77,894,127	T/C	—	uncertain significance
rs950900674	8:77,894,166	A/G	—	uncertain significance
rs912151931	8:77,894,178	T/A	—	uncertain significance
rs73691481	8:77,894,255	T/C	—	benign
rs4311633	8:77,894,303	T/C	—	benign
rs562263817	8:77,894,323	T/C	—	conflicting classifications of pathogenicity
rs10108054	8:77,894,356	C/T	—	benign
rs886063132	8:77,894,412	A/T	—	uncertain significance
rs886063133	8:77,894,450	A/T	—	uncertain significance
rs139337482	8:77,894,457	G/C	—	likely benign
rs181539288	8:77,894,485	G/A	—	uncertain significance
rs886063134	8:77,894,584	G/A	—	uncertain significance
rs886063135	8:77,894,678	T/G	—	uncertain significance
rs144050052	8:77,894,708	G/A	—	likely benign
rs1806859817	8:77,894,717	A/T	—	uncertain significance
rs927177664	8:77,894,724	A/C	—	uncertain significance
rs4610720	8:77,894,770	A/G	—	benign
rs569163196	8:77,894,792	A/T	—	uncertain significance
rs551943990	8:77,894,838	G/C	—	uncertain significance
rs1806867628	8:77,894,852	C/A	—	uncertain significance
rs145960090	8:77,894,870	C/A	—	uncertain significance
rs139852334	8:77,894,901	C/T	—	uncertain significance
rs754113775	8:77,894,902	G/A	—	uncertain significance
rs541772029	8:77,894,999	C/T	—	uncertain significance
rs886063136	8:77,895,008	G/A	—	uncertain significance
rs143201132	8:77,895,039	C/T	—	benign
rs1210536989	8:77,895,060	A/G	—	uncertain significance
rs1806878211	8:77,895,078	A/C	—	uncertain significance
rs1010520129	8:77,895,103	A/G	—	uncertain significance
rs886063137	8:77,895,173	C/A	—	uncertain significance
rs78045204	8:77,895,178	T/C	—	likely benign
rs190595998	8:77,895,264	G/C	—	likely benign
rs113776305	8:77,895,360	G/C	—	likely benign
rs529963492	8:77,895,394	G/C	—	likely benign
rs886063139	8:77,895,406	T/C	—	uncertain significance
rs148915806	8:77,895,457	C/T	—	uncertain significance
rs886063140	8:77,895,460	G/A	—	uncertain significance
rs1554584372	8:77,895,499	A/G	—	uncertain significance
rs1806889622	8:77,895,500	A/T	—	uncertain significance
rs1034467919	8:77,895,503	A/G	—	likely benign
rs558586088	8:77,895,504	G/A	—	uncertain significance
rs1806890153	8:77,895,518	C/T	—	uncertain significance
rs544763390	8:77,895,523	C/T	—	conflicting classifications of pathogenicity
rs995695713	8:77,895,524	G/C	—	uncertain significance
rs886332712	8:77,895,530	T/C	—	likely benign
rs1554584377	8:77,895,531	G/C	—	uncertain significance
rs1244697838	8:77,895,533	T/C	—	likely benign
rs2132042875	8:77,895,534	T/G	—	uncertain significance
rs2132042879	8:77,895,540	G/A	—	uncertain significance
rs756496949	8:77,895,546	A/C	—	uncertain significance
rs2132042893	8:77,895,547	G/A	—	likely benign
rs2487449927	8:77,895,549	C/T	—	uncertain significance
rs1563605751	8:77,895,550	T/C	—	uncertain significance
rs778231449	8:77,895,551	G/A	—	likely benign
rs1212284084	8:77,895,557	T/C	—	likely benign
rs1806891966	8:77,895,560	T/C	—	likely benign
rs2487449985	8:77,895,561	G/C	—	uncertain significance
rs2132042925	8:77,895,563	G/A	—	likely benign
rs1350680483	8:77,895,572	A/G	—	likely benign
rs774439315	8:77,895,581	A/G	—	likely benign

Showing 100 of 377 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.