TOPORS

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

Summary

This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]

Known Variants510 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs192538022	9:32,540,699	A/G	—	uncertain significance
rs753971890	9:32,540,745	A/T	—	uncertain significance
rs886063851	9:32,540,879	T/C	—	uncertain significance
rs1821046786	9:32,540,955	T/C	—	uncertain significance
rs970207555	9:32,541,014	A/G	—	uncertain significance
rs1821048003	9:32,541,027	A/G	—	uncertain significance
rs979887725	9:32,541,035	T/C	—	uncertain significance
rs563137078	9:32,541,044	A/G	—	uncertain significance
rs531812368	9:32,541,076	C/T	—	uncertain significance
rs984434581	9:32,541,077	G/A	—	uncertain significance
rs911094732	9:32,541,085	T/C	—	uncertain significance
rs752719297	9:32,541,268	T/C	—	uncertain significance
rs886063852	9:32,541,285	G/C	—	uncertain significance
rs778217226	9:32,541,338	T/C	—	uncertain significance
rs191337644	9:32,541,361	T/C	—	uncertain significance
rs201576667	9:32,541,376	T/C	—	benign
rs2118963655	9:32,541,387	A/T	—	uncertain significance
rs755752383	9:32,541,415	T/C	—	likely benign
rs772663730	9:32,541,430	T/G	—	likely benign
rs537145680	9:32,541,434	C/T	—	likely benign
rs747412319	9:32,541,435	G/A	—	uncertain significance
rs377690669	9:32,541,439	C/T	—	likely benign
rs776900627	9:32,541,440	G/A	—	uncertain significance
rs199708840	9:32,541,448	T/C	—	benign
rs751258105	9:32,541,455	G/A	—	uncertain significance
rs138580031	9:32,541,459	G/A	—	uncertain significance
rs200918654	9:32,541,468	G/C	—	uncertain significance
rs755664419	9:32,541,471	G/A	—	uncertain significance
rs779753179	9:32,541,473	G/C	—	uncertain significance
rs201329888	9:32,541,476	A/G	—	uncertain significance
rs185044466	9:32,541,483	T/C	—	uncertain significance
rs1821057345	9:32,541,485	C/T	—	uncertain significance
rs1312331438	9:32,541,487	G/A	—	likely benign
rs1417094098	9:32,541,489	G/T	—	uncertain significance
rs781367454	9:32,541,492	G/A	—	uncertain significance
rs746126550	9:32,541,493	G/A	—	likely benign
rs2118964076	9:32,541,494	T/C	—	uncertain significance
rs189325312	9:32,541,518	C/T	—	benign
rs745504273	9:32,541,520	C/G	—	conflicting classifications of pathogenicity
rs1363057170	9:32,541,523	T/C	—	likely benign
rs2489443983	9:32,541,524	T/C	—	uncertain significance
rs1554671322	9:32,541,528	T/A	—	uncertain significance
rs1401109247	9:32,541,531	C/G	—	uncertain significance
rs12348918	9:32,541,532	A/G	—	benign
rs3814518	9:32,541,535	G/A	—	likely benign
rs2489444188	9:32,541,550	T/C	—	likely benign
rs761500932	9:32,541,556	T/C	—	uncertain significance
rs1209487717	9:32,541,558	C/A	—	uncertain significance
rs1821059194	9:32,541,567	G/T	—	uncertain significance
rs2118964265	9:32,541,581	G/A	—	uncertain significance
rs2489444385	9:32,541,585	T/C	—	uncertain significance
rs748766113	9:32,541,596	T/C	—	uncertain significance
rs2489444453	9:32,541,606	T/C	—	uncertain significance
rs753219301	9:32,541,620	A/G	—	uncertain significance
rs201280945	9:32,541,631	C/T	—	likely benign
rs1292633801	9:32,541,633	T/C	—	uncertain significance
rs2489444651	9:32,541,641	A/T	—	uncertain significance
rs752154568	9:32,541,642	C/T	—	uncertain significance
rs757527959	9:32,541,650	T/A	—	uncertain significance
rs1282071395	9:32,541,657	C/G	—	uncertain significance
rs143560726	9:32,541,661	T/G	—	conflicting classifications of pathogenicity
rs1417720427	9:32,541,668	A/G	—	uncertain significance
rs947357620	9:32,541,677	G/A	—	uncertain significance
rs1821061900	9:32,541,699	G/A	—	uncertain significance
rs768838940	9:32,541,709	C/T	—	likely benign
rs193920910	9:32,541,715	T/G	—	uncertain significance
rs774134421	9:32,541,722	G/A	—	uncertain significance
rs1821062437	9:32,541,724	G/T	—	uncertain significance
rs761851969	9:32,541,726	C/A	—	uncertain significance
rs772169920	9:32,541,727	T/G	—	uncertain significance
rs1821062648	9:32,541,731	G/C	—	uncertain significance
rs138093293	9:32,541,732	G/A	—	uncertain significance
rs1369702932	9:32,541,740	T/C	—	conflicting classifications of pathogenicity
rs2489445121	9:32,541,746	C/G	—	uncertain significance
rs1352337247	9:32,541,748	T/C	—	likely benign
rs1821063131	9:32,541,749	T/C	—	uncertain significance
rs2489445156	9:32,541,750	C/T	—	uncertain significance
rs2489445181	9:32,541,753	T/C	—	uncertain significance
rs758943758	9:32,541,754	A/T	—	uncertain significance
rs142671355	9:32,541,770	G/C	—	uncertain significance
rs146289500	9:32,541,784	G/A	—	likely benign
rs1441632515	9:32,541,786	C/T	—	uncertain significance
rs1030875959	9:32,541,789	T/C	—	uncertain significance
rs750722963	9:32,541,812	G/A	—	uncertain significance
rs556954654	9:32,541,814	A/C	—	likely benign
rs371709773	9:32,541,815	C/T	—	uncertain significance
rs199926017	9:32,541,816	G/A	—	uncertain significance
rs374744430	9:32,541,819	A/C	—	uncertain significance
rs2489445545	9:32,541,821	G/A	—	uncertain significance
rs748187522	9:32,541,822	C/G	—	uncertain significance
rs138266918	9:32,541,828	C/T	—	uncertain significance
rs1821065130	9:32,541,832	A/G	—	likely benign
rs1193716746	9:32,541,835	G/C	—	uncertain significance
rs771756061	9:32,541,838	T/C	—	likely benign
rs770894688	9:32,541,841	C/A	—	uncertain significance
rs776112643	9:32,541,842	T/G	—	uncertain significance
rs375514604	9:32,541,844	A/G	—	likely benign
rs1821065731	9:32,541,848	T/C	—	likely benign
rs1424752025	9:32,541,853	C/T	—	likely benign
rs762457246	9:32,541,857	T/C	—	uncertain significance

Showing 100 of 510 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.