NUP188

nucleoporin 188

Summary

The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013]

Known Variants233 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs375427455	9:131,710,015	G/C	—	likely benign
rs1265978303	9:131,710,023	T/G	—	uncertain significance
rs570141310	9:131,710,024	G/A	—	uncertain significance
rs1841740600	9:131,711,497	T/C	—	uncertain significance
rs745598716	9:131,711,522	G/A	—	conflicting classifications of pathogenicity
rs199567728	9:131,715,085	C/T	—	uncertain significance
rs1366326755	9:131,715,088	C/T	—	pathogenic
rs893825148	9:131,718,639	G/C	—	uncertain significance
rs200724620	9:131,718,657	A/G	—	likely benign
rs764882564	9:131,719,257	G/T	—	uncertain significance
rs1588270041	9:131,720,298	C/T	—	likely pathogenic
rs1480414493	9:131,721,134	C/T	—	likely benign
rs2492021446	9:131,721,154	A/G	—	uncertain significance
rs17481212	9:131,721,164	C/T	—	benign
rs202203701	9:131,721,171	A/G	—	uncertain significance
rs1027256234	9:131,721,299	A/C	—	uncertain significance
rs1335604536	9:131,721,381	G/A	—	uncertain significance
rs762740256	9:131,721,400	A/G	—	uncertain significance
rs1242705917	9:131,721,418	G/A	—	uncertain significance
rs17507964	9:131,730,791	C/A	—	likely benign
rs151047784	9:131,730,804	G/A	—	uncertain significance
rs368467728	9:131,730,808	G/C	—	uncertain significance
rs17507971	9:131,730,813	T/C	—	likely benign
rs372015505	9:131,730,889	T/G	—	uncertain significance
rs186480704	9:131,730,899	G/C	—	uncertain significance
rs1012283061	9:131,730,921	A/G	—	uncertain significance
rs199727178	9:131,730,923	C/A	—	uncertain significance
rs140577118	9:131,730,983	G/A	—	likely benign
rs766027724	9:131,730,995	G/A	—	uncertain significance
rs573424580	9:131,731,706	G/A	—	likely benign
rs17452414	9:131,731,718	C/T	—	benign
rs1434031976	9:131,731,761	C/T	—	uncertain significance
rs760660735	9:131,731,771	C/T	—	uncertain significance
rs145324169	9:131,731,772	G/A	—	likely benign
rs1842077266	9:131,731,789	G/A	—	uncertain significance
rs748698041	9:131,733,113	G/A	—	uncertain significance
rs1161942776	9:131,733,126	C/G	—	uncertain significance
rs1052429762	9:131,733,129	A/G	—	likely benign
rs376452007	9:131,733,143	G/A	—	uncertain significance
rs202174281	9:131,733,145	G/A	—	uncertain significance
rs761802129	9:131,733,177	G/C	—	uncertain significance
rs199628868	9:131,733,199	A/T	—	uncertain significance
rs757540210	9:131,735,461	T/C	—	uncertain significance
rs148364986	9:131,735,465	T/C	—	likely benign
rs778764560	9:131,735,494	C/G	—	uncertain significance
rs142710734	9:131,735,495	C/T	—	benign
rs17452428	9:131,735,559	T/C	—	benign
rs4291366	9:131,737,747	C/G	—	—
rs17455384	9:131,739,518	C/A	intron variant	—
rs185388689	9:131,741,542	A/G	—	likely benign
rs770800954	9:131,741,551	A/G	—	uncertain significance
rs1842222183	9:131,741,554	C/G	—	uncertain significance
rs187418344	9:131,741,568	T/C	—	likely benign
rs763186315	9:131,741,572	C/T	—	uncertain significance
rs763800850	9:131,742,940	A/G	—	uncertain significance
rs779171698	9:131,742,970	G/A	—	uncertain significance
rs1379564929	9:131,743,549	A/G	—	uncertain significance
rs148473901	9:131,743,561	A/G	—	uncertain significance
rs763365191	9:131,743,577	A/G	—	uncertain significance
rs61733522	9:131,743,585	T/C	—	likely benign
rs943561046	9:131,743,636	C/T	—	uncertain significance
rs146782081	9:131,743,657	C/T	—	uncertain significance
rs1455161894	9:131,743,670	G/T	—	likely pathogenic
rs139639876	9:131,744,874	A/G	—	likely benign
rs144288673	9:131,744,878	T/C	—	likely benign
rs377536629	9:131,744,902	C/T	—	uncertain significance
rs1189143356	9:131,744,968	G/A	—	uncertain significance
rs2492063774	9:131,745,195	T/C	—	uncertain significance
rs61749217	9:131,745,252	T/C	—	uncertain significance
rs148151804	9:131,745,254	G/A	—	likely benign
rs1010127140	9:131,745,265	G/T	—	uncertain significance
rs1842278333	9:131,745,270	C/T	—	likely benign
rs719703	9:131,745,548	T/C	—	benign
rs763556880	9:131,745,608	T/G	—	uncertain significance
rs1842286098	9:131,745,758	G/A	—	pathogenic
rs779341005	9:131,745,768	C/T	—	uncertain significance
rs747128158	9:131,747,190	T/A	—	uncertain significance
rs373328580	9:131,747,196	C/T	—	uncertain significance
rs781782201	9:131,747,205	A/T	—	uncertain significance
rs137907377	9:131,747,213	C/T	—	uncertain significance
rs142108937	9:131,747,215	C/A	—	likely benign
rs936689150	9:131,747,220	T/C	—	uncertain significance
rs368725729	9:131,747,224	C/G	—	uncertain significance
rs776755662	9:131,747,226	G/A	—	uncertain significance
rs2492070130	9:131,747,237	C/T	—	pathogenic
rs752548050	9:131,747,255	A/G	—	uncertain significance
rs748122977	9:131,747,270	C/T	—	uncertain significance
rs201723859	9:131,747,284	C/A	—	likely benign
rs776362120	9:131,748,844	T/G	—	uncertain significance
rs374697679	9:131,748,854	C/T	—	likely benign
rs376408405	9:131,748,925	G/A	—	uncertain significance
rs1336437639	9:131,749,100	T/C	—	uncertain significance
rs61744524	9:131,749,113	T/C	—	benign
rs753864832	9:131,749,159	T/C	—	likely benign
rs546148924	9:131,749,872	A/T	—	uncertain significance
rs150761831	9:131,749,929	A/T	—	uncertain significance
rs2492078715	9:131,749,941	A/G	—	uncertain significance
rs766007889	9:131,749,950	A/G	—	uncertain significance
rs577239385	9:131,749,956	G/A	—	uncertain significance
rs375340522	9:131,749,993	G/A	—	uncertain significance

Showing 100 of 233 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.