PEX1

peroxisomal biogenesis factor 1

Summary

This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]

Known Variants1,346 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs769772779	7:92,116,343	T/C	—	uncertain significance
rs138531138	7:92,116,479	C/T	—	uncertain significance
rs886062499	7:92,116,530	A/G	—	uncertain significance
rs1403267319	7:92,116,535	G/T	—	uncertain significance
rs1004289500	7:92,116,537	A/G	—	uncertain significance
rs996832628	7:92,116,591	T/C	—	uncertain significance
rs886062500	7:92,116,638	C/G	—	uncertain significance
rs957039229	7:92,116,772	T/C	—	likely benign
rs2116022091	7:92,116,777	T/C	—	likely benign
rs2484601783	7:92,116,782	T/C	—	uncertain significance
rs2116022170	7:92,116,783	T/C	—	likely benign
rs765142376	7:92,116,784	A/T	—	uncertain significance
rs750722718	7:92,116,791	G/T	—	uncertain significance
rs2484601870	7:92,116,795	A/T	—	likely benign
rs150793635	7:92,116,799	C/T	—	conflicting classifications of pathogenicity
rs755549316	7:92,116,800	G/A	—	uncertain significance
rs2484602014	7:92,116,807	T/C	—	likely benign
rs139054881	7:92,116,813	A/T	—	conflicting classifications of pathogenicity
rs2484602054	7:92,116,815	T/G	—	uncertain significance
rs375758017	7:92,116,822	T/C	—	likely benign
rs2116022815	7:92,116,831	C/T	—	likely benign
rs2484602170	7:92,116,835	G/T	—	uncertain significance
rs1790992143	7:92,116,840	T/C	—	likely benign
rs2116022906	7:92,116,842	G/T	—	uncertain significance
rs2484602216	7:92,116,847	C/G	—	uncertain significance
rs2484602222	7:92,116,849	T/C	—	likely benign
rs749050363	7:92,116,851	C/T	—	uncertain significance
rs2116022961	7:92,116,852	A/G	—	likely benign
rs770868309	7:92,116,856	C/T	—	uncertain significance
rs1554365998	7:92,116,857	T/A	—	uncertain significance
rs2484602357	7:92,116,865	G/T	—	likely benign
rs1585206248	7:92,116,866	A/G	—	likely benign
rs774248025	7:92,116,871	G/T	—	likely benign
rs2484602416	7:92,116,872	A/T	—	likely benign
rs991200065	7:92,116,875	A/T	—	likely benign
rs34965037	7:92,117,993	G/A	—	—
rs35892336	7:92,118,494	G/C	—	benign
rs189902683	7:92,118,558	T/C	—	likely benign
rs536213690	7:92,118,591	A/G	—	likely benign
rs370369794	7:92,118,594	A/G	—	likely benign
rs770743353	7:92,118,595	T/A	—	likely benign
rs778565066	7:92,118,596	C/T	—	likely benign
rs2484609326	7:92,118,598	G/A	—	likely benign
rs745692619	7:92,118,605	A/G	—	pathogenic
rs375213175	7:92,118,612	A/G	—	likely benign
rs553001596	7:92,118,618	A/T	—	conflicting classifications of pathogenicity
rs863225085	7:92,118,624	C/T	stop gained	pathogenic
rs2484609528	7:92,118,639	A/G	—	likely benign
rs2116038940	7:92,118,642	G/C	—	likely benign
rs1585209870	7:92,118,648	T/C	—	likely benign
rs1048574377	7:92,118,651	T/C	—	likely benign
rs1791136903	7:92,118,652	G/A	—	uncertain significance
rs34825053	7:92,118,654	G/A	—	likely benign
rs398123410	7:92,118,660	A/G	—	uncertain significance
rs1473858573	7:92,118,664	G/T	—	conflicting classifications of pathogenicity
rs2484609758	7:92,118,677	G/A	—	uncertain significance
rs2116039237	7:92,118,678	T/C	—	likely benign
rs2484609816	7:92,118,679	G/C	—	likely pathogenic
rs766682184	7:92,118,682	T/C	—	uncertain significance
rs1393663701	7:92,118,683	G/A	—	pathogenic
rs368274049	7:92,118,687	A/G	—	likely benign
rs1173172739	7:92,118,696	T/A	—	conflicting classifications of pathogenicity
rs2484609956	7:92,118,699	G/T	—	likely benign
rs371575516	7:92,118,709	G/A	—	uncertain significance
rs200306465	7:92,118,724	A/C	—	uncertain significance
rs483352694	7:92,118,729	T/A	—	uncertain significance
rs777384403	7:92,118,732	G/A	—	conflicting classifications of pathogenicity
rs756953510	7:92,118,735	C/T	—	likely benign
rs2484610293	7:92,118,738	C/T	—	likely pathogenic
rs2116039914	7:92,118,743	G/A	—	likely benign
rs778635449	7:92,118,745	A/T	—	likely benign
rs1251346880	7:92,118,746	A/G	—	likely benign
rs745612436	7:92,118,751	A/G	—	conflicting classifications of pathogenicity
rs1197925358	7:92,118,752	G/T	—	likely benign
rs2484610408	7:92,118,755	A/G	—	likely benign
rs367814599	7:92,118,756	T/C	—	uncertain significance
rs1260102599	7:92,119,008	T/C	—	likely benign
rs759769512	7:92,119,009	G/A	—	likely benign
rs2484612239	7:92,119,011	G/T	—	likely benign
rs767898582	7:92,119,014	G/A	—	likely benign
rs753149287	7:92,119,016	A/G	—	likely benign
rs761255965	7:92,119,021	G/A	—	likely benign
rs1030880599	7:92,119,022	C/G	—	uncertain significance
rs764752742	7:92,119,024	A/G	—	uncertain significance
rs2484612379	7:92,119,030	C/G	—	uncertain significance
rs753334806	7:92,119,031	A/G	—	conflicting classifications of pathogenicity
rs1791172694	7:92,119,032	C/T	—	uncertain significance
rs886062501	7:92,119,037	G/A	—	conflicting classifications of pathogenicity
rs767337582	7:92,119,041	C/T	—	uncertain significance
rs554803633	7:92,119,042	G/A	—	likely benign
rs2484612519	7:92,119,046	T/C	—	uncertain significance
rs574785174	7:92,119,047	C/A	—	uncertain significance
rs145980902	7:92,119,054	T/C	—	uncertain significance
rs1791175493	7:92,119,062	C/T	—	uncertain significance
rs886043722	7:92,119,066	T/A	—	uncertain significance
rs1234805996	7:92,119,070	T/C	—	likely benign
rs2484612623	7:92,119,076	C/T	—	likely benign
rs371622709	7:92,119,079	T/A	—	uncertain significance
rs2484612683	7:92,119,082	A/G	—	likely benign
rs1057517467	7:92,119,090	G/A	stop gained	pathogenic

Showing 100 of 1,346 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.