NUP214

nucleoporin 214

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 is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Known Variants191 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs372511317	9:134,002,906	A/G	—	likely benign
rs1389911298	9:134,002,927	C/T	—	uncertain significance
rs1012074115	9:134,002,928	G/A	—	likely benign
rs143595616	9:134,002,977	C/T	—	pathogenic
rs202144029	9:134,002,981	C/T	—	uncertain significance
rs764501823	9:134,002,998	T/A	—	uncertain significance
rs750162416	9:134,003,005	A/G	—	uncertain significance
rs140604267	9:134,003,034	A/C	—	uncertain significance
rs199886071	9:134,003,070	A/C	—	uncertain significance
rs117100888	9:134,003,084	C/T	—	likely benign
rs375906479	9:134,003,745	C/G	—	uncertain significance
rs139667144	9:134,003,748	A/G	—	uncertain significance
rs1190684735	9:134,003,763	C/T	—	uncertain significance
rs1281716429	9:134,003,779	G/C	—	uncertain significance
rs1831429983	9:134,003,796	C/T	—	uncertain significance
rs58363837	9:134,003,803	C/T	—	benign
rs1404169404	9:134,003,808	A/G	—	uncertain significance
rs1023595401	9:134,003,818	G/T	—	uncertain significance
rs370750765	9:134,004,689	T/G	—	uncertain significance
rs1564175808	9:134,004,733	A/G	—	uncertain significance
rs369223038	9:134,004,736	T/C	—	uncertain significance
rs747079525	9:134,004,750	A/G	—	uncertain significance
rs114013425	9:134,004,812	G/A	—	likely benign
rs2538402637	9:134,004,834	A/G	—	uncertain significance
rs151144457	9:134,004,841	C/T	—	uncertain significance
rs2538407506	9:134,006,215	T/G	—	uncertain significance
rs201552770	9:134,008,002	T/C	—	uncertain significance
rs1192976813	9:134,008,007	C/T	—	uncertain significance
rs62580390	9:134,008,406	A/G	coding sequence variant	—
rs561589827	9:134,008,528	G/A	—	likely benign
rs148721313	9:134,010,381	A/G	—	likely benign
rs2538417680	9:134,010,382	T/C	—	likely pathogenic
rs762427456	9:134,011,391	C/A	—	uncertain significance
rs777090971	9:134,014,668	A/T	—	likely benign
rs2538426507	9:134,014,690	T/C	—	uncertain significance
rs561685309	9:134,014,764	G/A	—	uncertain significance
rs747002439	9:134,014,791	A/G	—	uncertain significance
rs2538428982	9:134,015,938	G/A	—	uncertain significance
rs563025075	9:134,015,962	C/T	—	likely pathogenic
rs771361573	9:134,019,736	C/G	—	uncertain significance
rs776701369	9:134,019,784	C/T	—	uncertain significance
rs148833862	9:134,019,807	C/T	—	uncertain significance
rs370097324	9:134,019,853	C/A	—	uncertain significance
rs763655138	9:134,019,867	C/A	—	uncertain significance
rs142073749	9:134,019,899	C/T	—	likely benign
rs570359532	9:134,019,919	G/A	—	uncertain significance
rs202048554	9:134,019,921	C/T	—	uncertain significance
rs766989969	9:134,019,957	T/C	—	uncertain significance
rs202116395	9:134,019,961	T/C	—	uncertain significance
rs189969939	9:134,019,967	C/T	—	likely benign
rs140261973	9:134,019,979	C/T	—	uncertain significance
rs34495245	9:134,019,980	G/A	—	benign
rs752833199	9:134,020,045	A/G	—	uncertain significance
rs144674763	9:134,020,048	G/A	—	uncertain significance
rs103612	9:134,020,092	C/T	missense variant	benign
rs140139321	9:134,020,129	A/C	—	uncertain significance
rs774435324	9:134,021,530	C/A	—	uncertain significance
rs780312501	9:134,021,576	G/A	—	likely benign
rs575846736	9:134,021,592	T/C	—	uncertain significance
rs2296710	9:134,021,630	A/G	—	benign
rs371523799	9:134,021,655	G/A	—	uncertain significance
rs1022724719	9:134,022,889	A/G	—	uncertain significance
rs200065674	9:134,022,939	A/G	—	uncertain significance
rs141930975	9:134,022,950	G/A	—	likely benign
rs781089983	9:134,026,016	A/G	—	uncertain significance
rs377273510	9:134,026,043	G/A	—	uncertain significance
rs147793759	9:134,026,073	C/G	—	uncertain significance
rs373361188	9:134,027,125	G/A	—	likely benign
rs61756081	9:134,027,138	A/G	—	benign
rs1051827917	9:134,027,139	T/C	—	uncertain significance
rs376433312	9:134,027,162	C/T	—	uncertain significance
rs751835760	9:134,027,169	G/C	—	uncertain significance
rs190788992	9:134,027,192	A/G	—	likely benign
rs758042293	9:134,027,214	G/A	—	uncertain significance
rs1832278376	9:134,027,259	C/T	—	uncertain significance
rs776040143	9:134,027,265	G/C	—	uncertain significance
rs780571998	9:134,038,417	C/T	—	likely benign
rs2538471784	9:134,038,422	C/T	—	uncertain significance
rs947271522	9:134,038,463	A/C	—	uncertain significance
rs35631340	9:134,038,483	T/G	—	benign
rs558499270	9:134,038,493	C/T	—	uncertain significance
rs752238998	9:134,038,530	C/T	—	uncertain significance
rs138786552	9:134,038,535	G/C	—	uncertain significance
rs1398744672	9:134,038,557	A/G	—	uncertain significance
rs149414247	9:134,039,285	A/G	—	uncertain significance
rs1332248249	9:134,039,309	G/C	—	uncertain significance
rs745441438	9:134,039,311	A/T	—	uncertain significance
rs752962390	9:134,049,507	A/G	—	uncertain significance
rs79941555	9:134,049,546	C/T	—	uncertain significance
rs777141244	9:134,049,547	G/A	—	uncertain significance
rs557980857	9:134,049,550	C/T	—	uncertain significance
rs35979160	9:134,049,588	C/T	—	uncertain significance
rs201301148	9:134,049,600	G/A	—	uncertain significance
rs371504090	9:134,049,607	G/A	—	uncertain significance
rs1833036566	9:134,049,612	C/T	—	uncertain significance
rs759558468	9:134,049,649	C/T	—	uncertain significance
rs376694608	9:134,050,892	C/T	—	uncertain significance
rs2538495132	9:134,050,945	A/G	—	uncertain significance
rs752806960	9:134,050,963	G/C	—	uncertain significance
rs149894427	9:134,050,985	G/A	—	uncertain significance

Showing 100 of 191 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.