NUP93

nucleoporin 93

Summary

The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene encodes a nucleoporin protein that localizes both to the basket of the pore and to the nuclear entry of the central gated channel of the pore. The encoded protein is a target of caspase cysteine proteases that play a central role in programmed cell death by apoptosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

Known Variants238 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs76299088	16:56,762,197	T/A	upstream gene variant	—
rs34056275	16:56,772,710	G/A	intron variant	—
rs4783958	16:56,781,830	C/T	—	benign
rs2144456685	16:56,782,145	G/A	—	likely pathogenic
rs2543921293	16:56,782,241	C/A	—	uncertain significance
rs144673411	16:56,782,276	G/A	—	benign
rs754633729	16:56,782,289	C/T	—	uncertain significance
rs557498689	16:56,782,295	C/T	—	uncertain significance
rs61756119	16:56,782,312	G/A	—	benign
rs144159027	16:56,782,323	C/T	—	uncertain significance
rs1233809089	16:56,782,339	G/A	—	likely pathogenic
rs189526861	16:56,782,347	T/G	—	likely benign
rs75745425	16:56,783,116	A/T	intron variant	—
rs7202364	16:56,785,390	A/T	—	—
rs558727817	16:56,789,164	G/A	—	—
rs145734877	16:56,792,360	C/G	—	benign
rs138944474	16:56,792,439	T/A	—	benign
rs750501091	16:56,792,462	C/T	—	likely benign
rs2543934574	16:56,792,480	C/T	—	likely benign
rs756214659	16:56,792,481	A/G	—	likely benign
rs1962069724	16:56,792,499	C/T	—	pathogenic
rs575750196	16:56,792,522	C/T	—	likely benign
rs998712469	16:56,792,551	A/G	—	uncertain significance
rs79616633	16:56,801,047	C/T	intron variant	—
rs76729986	16:56,803,706	A/T	—	—
rs540077191	16:56,805,031	A/G	—	—
rs8052978	16:56,814,847	G/C	—	—
rs560387216	16:56,828,314	A/G	—	—
rs146228854	16:56,832,293	T/C	—	likely benign
rs9927884	16:56,832,302	C/T	—	benign
rs368419147	16:56,832,376	C/A	—	likely benign
rs745520675	16:56,832,396	G/A	—	benign
rs2543994807	16:56,832,415	G/A	—	uncertain significance
rs943690985	16:56,832,470	T/G	—	likely benign
rs140319321	16:56,832,591	G/A	—	likely benign
rs111794190	16:56,832,653	C/T	—	likely benign
rs79984435	16:56,834,234	G/A	regulatory region variant	—
rs79600951	16:56,834,254	C/T	—	—
rs115405313	16:56,839,346	T/A	—	likely benign
rs751953161	16:56,839,422	G/A	—	uncertain significance
rs1803870	16:56,839,439	C/T	—	benign
rs149086354	16:56,839,452	A/G	—	uncertain significance
rs1249815060	16:56,839,508	A/G	—	likely benign
rs1389829048	16:56,839,518	G/A	—	uncertain significance
rs114852022	16:56,839,585	A/G	—	likely benign
rs75525025	16:56,839,820	C/T	—	likely benign
rs77821562	16:56,852,292	A/G	—	likely benign
rs1561138	16:56,852,311	A/C	—	benign
rs12928581	16:56,852,389	T/C	—	benign
rs755422278	16:56,852,573	C/T	—	likely benign
rs1266158268	16:56,852,594	G/T	—	uncertain significance
rs764790250	16:56,852,610	G/A	—	uncertain significance
rs751463195	16:56,852,631	A/C	—	uncertain significance
rs184256098	16:56,852,640	A/G	—	uncertain significance
rs35687281	16:56,852,644	G/A	—	likely benign
rs189324020	16:56,852,645	C/T	—	uncertain significance
rs1561139	16:56,852,822	G/T	—	benign
rs80261911	16:56,855,192	C/T	—	benign
rs201924382	16:56,855,426	A/G	—	likely pathogenic
rs763780949	16:56,855,436	A/G	—	benign
rs374284384	16:56,855,446	G/A	—	uncertain significance
rs140226964	16:56,855,472	C/G	—	uncertain significance
rs146924670	16:56,855,473	C/A	—	uncertain significance
rs137927975	16:56,855,484	C/T	—	likely benign
rs35226934	16:56,855,487	C/T	—	likely benign
rs2118017	16:56,855,496	G/C	—	benign
rs2895432	16:56,856,955	G/C	—	—
rs144585895	16:56,857,440	A/C	—	likely benign
rs114269775	16:56,857,590	T/C	—	likely benign
rs371599921	16:56,857,615	G/T	—	likely benign
rs374124744	16:56,857,624	T/G	—	uncertain significance
rs759345823	16:56,857,628	G/A	—	uncertain significance
rs60510831	16:56,857,660	C/T	—	benign
rs547795592	16:56,857,664	T/G	—	uncertain significance
rs762345481	16:56,857,678	A/G	—	likely benign
rs371279811	16:56,857,679	A/G	—	uncertain significance
rs35563991	16:56,857,680	C/T	—	likely benign
rs375417648	16:56,857,688	C/G	—	uncertain significance
rs764377297	16:56,857,708	G/T	—	likely benign
rs370111038	16:56,857,716	G/A	—	uncertain significance
rs1596843391	16:56,857,719	T/A	—	uncertain significance
rs8056371	16:56,857,753	G/A	—	likely benign
rs140028495	16:56,857,754	C/G	—	likely benign
rs12919839	16:56,859,216	C/T	intron variant	—
rs150588012	16:56,862,968	T/C	—	likely benign
rs971247149	16:56,863,004	C/T	—	uncertain significance
rs765824089	16:56,863,017	T/C	—	uncertain significance
rs758865966	16:56,863,022	G/A	—	pathogenic
rs3816116	16:56,863,027	A/G	—	benign
rs573631580	16:56,863,031	A/G	—	likely benign
rs73557741	16:56,863,072	C/T	—	benign
rs76940876	16:56,863,215	C/T	—	benign
rs60310821	16:56,863,229	T/C	—	benign
rs74021822	16:56,864,294	G/A	—	likely benign
rs1561140	16:56,864,398	C/T	—	benign
rs201054475	16:56,864,399	T/C	—	likely benign
rs149714368	16:56,864,456	G/A	—	uncertain significance
rs139266728	16:56,864,472	G/A	—	likely benign
rs201285651	16:56,864,502	C/A	—	uncertain significance
rs2544054447	16:56,864,509	G/A	—	uncertain significance

Showing 100 of 238 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.