TNPO3

transportin 3

Summary

The protein encoded by this gene is a nuclear import receptor for serine/arginine-rich (SR) proteins such as the splicing factors SFRS1 and SFRS2. The encoded protein has also been shown to be involved in HIV-1 infection, apparently through interaction with the HIV-1 capsid protein. Several protein-coding and non-coding transcript variants have been found for this gene. [provided by RefSeq, Apr 2020]

Known Variants587 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2280714	7:128,594,725	C/A	—	—
rs12539741	7:128,596,805	C/T	intron variant	—
rs587777430	7:128,597,310	—	—	pathogenic
rs750548861	7:128,597,313	C/T	—	uncertain significance
rs2535803851	7:128,597,316	A/G	—	uncertain significance
rs2535803949	7:128,597,325	G/A	—	uncertain significance
rs1796994401	7:128,597,330	G/T	—	uncertain significance
rs61756249	7:128,597,340	G/A	—	conflicting classifications of pathogenicity
rs751327499	7:128,597,363	C/T	—	conflicting classifications of pathogenicity
rs10236569	7:128,597,587	T/G	—	benign
rs115442046	7:128,597,636	T/C	—	likely benign
rs115663147	7:128,607,047	C/T	—	likely benign
rs774254170	7:128,607,317	C/G	—	likely benign
rs1180206837	7:128,607,318	C/A	—	likely benign
rs772450996	7:128,607,323	G/T	—	likely benign
rs760847102	7:128,607,337	G/C	—	uncertain significance
rs1391739330	7:128,607,339	G/C	—	likely benign
rs2128988428	7:128,607,368	T/G	—	uncertain significance
rs1064796299	7:128,607,369	G/C	—	uncertain significance
rs1798015777	7:128,607,371	G/T	—	uncertain significance
rs753856787	7:128,607,372	T/C	—	likely benign
rs760128958	7:128,607,378	T/C	—	uncertain significance
rs1798016883	7:128,607,379	G/C	—	uncertain significance
rs765613943	7:128,607,383	C/T	—	uncertain significance
rs8043	7:128,607,384	G/A	—	benign
rs548382251	7:128,607,390	C/T	—	benign
rs545012511	7:128,607,392	C/T	—	uncertain significance
rs149434536	7:128,607,393	G/A	—	benign
rs1214636778	7:128,607,412	C/A	—	uncertain significance
rs201210726	7:128,607,420	G/A	—	conflicting classifications of pathogenicity
rs886044218	7:128,607,434	A/G	—	uncertain significance
rs188168905	7:128,607,436	C/T	—	uncertain significance
rs1798023288	7:128,607,442	A/G	—	uncertain significance
rs374776250	7:128,607,452	T/C	—	conflicting classifications of pathogenicity
rs2535896474	7:128,607,464	G/T	—	likely benign
rs73463020	7:128,607,524	C/T	—	likely benign
rs144859720	7:128,607,714	G/A	—	likely benign
rs143326920	7:128,609,957	C/T	—	likely benign
rs373575451	7:128,610,182	C/T	—	likely benign
rs377481900	7:128,610,185	C/T	—	likely benign
rs2128991988	7:128,610,192	A/C	—	likely benign
rs1393354725	7:128,610,193	C/T	—	likely benign
rs758404751	7:128,610,202	C/T	—	uncertain significance
rs199600419	7:128,610,203	G/A	—	uncertain significance
rs2535921580	7:128,610,206	C/G	—	uncertain significance
rs1585324543	7:128,610,210	C/T	—	uncertain significance
rs2535921694	7:128,610,217	C/T	—	uncertain significance
rs2128992028	7:128,610,220	G/A	—	likely benign
rs1585324549	7:128,610,223	C/T	—	likely benign
rs886044413	7:128,610,228	A/G	—	uncertain significance
rs775545486	7:128,610,253	G/A	—	likely benign
rs566110160	7:128,610,255	T/C	—	conflicting classifications of pathogenicity
rs1484665557	7:128,610,256	A/G	—	likely benign
rs1554435157	7:128,610,257	T/C	—	uncertain significance
rs773574448	7:128,610,258	—	—	pathogenic
rs764566484	7:128,610,259	G/C	—	likely benign
rs1193471279	7:128,610,260	G/C	—	uncertain significance
rs774723247	7:128,610,261	G/C	—	uncertain significance
rs2535922526	7:128,610,263	G/C	—	uncertain significance
rs1225457720	7:128,610,266	A/C	—	uncertain significance
rs886042837	7:128,610,280	G/C	—	uncertain significance
rs1344658136	7:128,610,281	G/T	—	uncertain significance
rs1798323201	7:128,610,283	G/A	—	likely benign
rs2535922748	7:128,610,284	T/G	—	uncertain significance
rs2535922774	7:128,610,286	C/T	—	likely benign
rs1295494267	7:128,610,297	T/C	—	uncertain significance
rs1798324013	7:128,610,298	G/C	—	likely benign
rs2535922970	7:128,610,311	C/G	—	uncertain significance
rs1585324644	7:128,610,319	G/A	—	likely benign
rs587777431	7:128,610,347	C/G	missense variant	pathogenic
rs570772653	7:128,610,348	G/A	—	uncertain significance
rs944698357	7:128,610,359	T/C	—	uncertain significance
rs886043142	7:128,610,371	T/G	—	uncertain significance
rs190759031	7:128,610,375	T/G	—	likely benign
rs1691779	7:128,610,484	A/G	—	benign
rs10276681	7:128,612,326	T/C	—	likely benign
rs2535947108	7:128,612,464	T/C	—	likely benign
rs772376423	7:128,612,471	T/G	—	likely benign
rs1479952680	7:128,612,479	C/T	—	likely pathogenic
rs1002747651	7:128,612,484	T/C	—	uncertain significance
rs759300872	7:128,612,497	T/C	—	conflicting classifications of pathogenicity
rs1554435539	7:128,612,504	G/C	—	likely benign
rs2535947818	7:128,612,506	G/C	—	uncertain significance
rs1057064473	7:128,612,525	G/A	—	likely benign
rs2535948041	7:128,612,527	C/A	—	uncertain significance
rs2535948067	7:128,612,528	A/G	—	likely benign
rs751511310	7:128,612,546	G/A	—	likely benign
rs2535948269	7:128,612,551	C/T	—	uncertain significance
rs11538884	7:128,612,552	C/T	—	benign
rs1131691750	7:128,612,559	G/A	—	uncertain significance
rs1339666918	7:128,612,577	T/C	—	uncertain significance
rs368873021	7:128,612,584	T/C	—	conflicting classifications of pathogenicity
rs2535948700	7:128,612,585	A/G	—	likely benign
rs1213604486	7:128,612,586	G/C	—	uncertain significance
rs772598470	7:128,612,604	C/T	—	conflicting classifications of pathogenicity
rs761072106	7:128,612,620	G/C	—	uncertain significance
rs780577225	7:128,612,625	C/T	—	uncertain significance
rs964315128	7:128,612,626	G/A	—	uncertain significance
rs142359170	7:128,612,630	A/C	—	uncertain significance
rs2128995402	7:128,612,634	A/C	—	uncertain significance

Showing 100 of 587 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.