PEX14

peroxisomal biogenesis factor 14

Summary

This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]

Known Variants412 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs72869122	1:10,534,755	C/A	—	benign
rs115474604	1:10,534,837	C/G	—	benign
rs768427015	1:10,535,014	C/T	—	likely benign
rs1641165924	1:10,535,015	C/T	—	likely benign
rs774075581	1:10,535,017	C/T	—	uncertain significance
rs1476050374	1:10,535,032	C/T	—	likely benign
rs1372422981	1:10,535,035	G/A	—	likely benign
rs932921080	1:10,535,037	A/G	—	uncertain significance
rs753975643	1:10,535,038	G/A	—	likely benign
rs2522558079	1:10,535,039	C/G	—	uncertain significance
rs200395336	1:10,535,041	G/C	—	uncertain significance
rs1410701421	1:10,535,042	G/A	—	uncertain significance
rs759852702	1:10,535,043	C/T	—	uncertain significance
rs398124174	1:10,535,044	A/C	—	uncertain significance
rs2124356750	1:10,535,045	G/C	—	uncertain significance
rs201979629	1:10,535,049	A/T	—	conflicting classifications of pathogenicity
rs1007978005	1:10,535,051	C/T	—	uncertain significance
rs12068754	1:10,535,052	C/G	—	conflicting classifications of pathogenicity
rs1307415913	1:10,535,053	G/C	—	likely benign
rs896802943	1:10,535,054	A/G	—	uncertain significance
rs2124356828	1:10,535,055	G/A	—	uncertain significance
rs1276166187	1:10,535,056	C/T	—	likely benign
rs1641167602	1:10,535,060	G/T	—	likely pathogenic
rs2124356856	1:10,535,062	A/G	—	uncertain significance
rs756953282	1:10,535,064	G/A	—	uncertain significance
rs369035854	1:10,535,065	G/T	—	uncertain significance
rs200154696	1:10,535,067	G/A	—	conflicting classifications of pathogenicity
rs1172385347	1:10,535,068	A/G	—	likely benign
rs780024607	1:10,535,069	G/A	—	likely benign
rs1373853637	1:10,535,073	G/A	—	likely benign
rs2522558524	1:10,535,074	A/G	—	likely benign
rs749238226	1:10,535,075	C/T	—	likely benign
rs768515260	1:10,535,077	G/A	—	likely benign
rs376946441	1:10,535,079	C/T	—	likely benign
rs622623	1:10,555,257	C/T	—	benign
rs1219479331	1:10,555,313	T/C	—	likely benign
rs1641538080	1:10,555,315	C/T	—	likely benign
rs1641538139	1:10,555,316	C/A	—	likely benign
rs757529825	1:10,555,317	A/G	—	likely benign
rs780963131	1:10,555,322	T/C	—	likely benign
rs1641538447	1:10,555,335	G/A	—	uncertain significance
rs755705743	1:10,555,338	C/G	—	uncertain significance
rs779545665	1:10,555,342	T/C	—	conflicting classifications of pathogenicity
rs1641538744	1:10,555,357	T/C	—	likely benign
rs2522647101	1:10,555,364	C/T	—	uncertain significance
rs1479023779	1:10,555,368	G/A	—	uncertain significance
rs748746721	1:10,555,370	G/A	—	uncertain significance
rs1407518602	1:10,555,371	A/G	—	uncertain significance
rs144664869	1:10,555,372	G/A	—	likely benign
rs1161833863	1:10,555,374	C/T	—	uncertain significance
rs1557810674	1:10,555,375	G/A	—	likely benign
rs551147900	1:10,555,378	G/A	—	uncertain significance
rs369479412	1:10,555,387	C/T	—	likely benign
rs1324423072	1:10,555,389	A/G	—	likely benign
rs1351156937	1:10,555,390	A/G	—	likely benign
rs373584636	1:10,555,395	T/C	—	benign
rs377686703	1:10,555,398	G/T	—	likely benign
rs636291	1:10,556,097	G/A	regulatory region variant	—
rs648324	1:10,556,447	G/T	regulatory region variant	—
rs10864459	1:10,563,609	A/G	—	benign
rs616488	1:10,566,215	A/G	intron variant	benign
rs1298189613	1:10,568,416	A/G	—	—
rs879878849	1:10,568,420	T/G	—	—
rs2056417	1:10,581,658	G/A	intron variant	—
rs12408852	1:10,595,982	G/A	—	likely benign
rs2506889	1:10,596,022	C/T	—	benign
rs2522861425	1:10,596,259	T/A	—	likely benign
rs778964302	1:10,596,262	C/T	—	likely benign
rs886044596	1:10,596,264	C/G	—	uncertain significance
rs2522861455	1:10,596,265	A/G	—	likely benign
rs2522861530	1:10,596,272	T/C	—	likely benign
rs1570228034	1:10,596,277	C/T	—	uncertain significance
rs139797106	1:10,596,278	G/A	—	conflicting classifications of pathogenicity
rs1239507203	1:10,596,284	G/C	—	likely benign
rs2124482101	1:10,596,286	A/G	—	uncertain significance
rs2124482116	1:10,596,293	A/G	—	likely benign
rs370090221	1:10,596,294	C/T	—	pathogenic
rs940853094	1:10,596,297	A/G	—	uncertain significance
rs770183471	1:10,596,303	C/T	—	uncertain significance
rs573113329	1:10,596,304	G/A	—	uncertain significance
rs540190684	1:10,596,309	C/T	—	uncertain significance
rs2522862007	1:10,596,314	G/A	—	likely benign
rs1374474122	1:10,596,318	C/T	—	uncertain significance
rs2124482219	1:10,596,325	C/A	—	uncertain significance
rs768019140	1:10,596,335	A/G	—	likely benign
rs2124482255	1:10,596,339	T/C	—	uncertain significance
rs12375	1:10,596,341	C/T	—	benign
rs753472251	1:10,596,348	A/C	—	uncertain significance
rs2522862399	1:10,596,353	A/G	—	uncertain significance
rs2522862418	1:10,596,358	C/T	—	uncertain significance
rs373538655	1:10,596,359	A/G	—	likely benign
rs376989411	1:10,596,361	G/C	—	likely benign
rs758302680	1:10,596,371	G/A	—	likely benign
rs2480779	1:10,596,388	A/G	—	benign
rs115344694	1:10,596,422	C/T	—	likely benign
rs2480778	1:10,596,530	A/G	—	benign
rs10779738	1:10,596,622	G/A	—	benign
rs10864461	1:10,596,624	C/T	—	benign
rs10746495	1:10,620,270	A/G	intron variant	—
rs34575776	1:10,621,061	A/G	intron variant	—

Showing 100 of 412 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.