POP1

POP1 ribonuclease P/MRP subunit

Summary

This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

Known Variants324 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11997551	8:99,135,437	G/A	—	benign
rs2488020334	8:99,135,570	C/G	—	pathogenic
rs188031074	8:99,135,573	A/G	—	uncertain significance
rs145484648	8:99,135,575	G/C	—	uncertain significance
rs1051371484	8:99,135,579	A/G	—	uncertain significance
rs376017756	8:99,135,592	C/T	—	likely benign
rs372465444	8:99,135,619	C/T	—	likely benign
rs926275861	8:99,135,629	C/T	—	likely benign
rs61743394	8:99,135,639	G/A	—	conflicting classifications of pathogenicity
rs201751827	8:99,135,695	G/C	—	uncertain significance
rs979847872	8:99,135,703	A/G	—	likely benign
rs373776571	8:99,135,712	A/G	—	uncertain significance
rs28556674	8:99,135,787	A/G	—	benign
rs4735529	8:99,139,610	T/C	—	benign
rs1253137363	8:99,139,818	A/G	—	likely benign
rs370453487	8:99,139,843	C/T	—	conflicting classifications of pathogenicity
rs767448528	8:99,139,844	G/A	—	uncertain significance
rs143956966	8:99,139,850	G/A	—	uncertain significance
rs184763875	8:99,139,851	G/A	—	benign
rs148625494	8:99,139,874	C/G	—	uncertain significance
rs2488031013	8:99,139,877	T/C	—	uncertain significance
rs141161667	8:99,139,901	A/G	—	benign
rs773655393	8:99,139,902	G/A	—	likely benign
rs376683979	8:99,139,908	C/T	—	likely benign
rs766507832	8:99,139,918	A/T	—	uncertain significance
rs369676489	8:99,139,919	T/A	—	uncertain significance
rs150709391	8:99,139,936	G/C	—	uncertain significance
rs1293541601	8:99,139,938	A/G	—	likely benign
rs1216289306	8:99,139,953	C/T	—	likely benign
rs775092432	8:99,139,984	A/G	—	uncertain significance
rs1816253483	8:99,139,998	C/T	—	likely benign
rs3802195	8:99,140,208	T/G	—	benign
rs3802196	8:99,140,379	G/T	—	benign
rs2447508	8:99,140,544	G/A	—	benign
rs200575318	8:99,140,591	A/G	—	likely pathogenic
rs145635384	8:99,140,609	A/G	—	likely benign
rs758067100	8:99,140,624	A/G	—	likely benign
rs779859412	8:99,140,634	A/G	—	uncertain significance
rs370284594	8:99,140,650	C/T	—	uncertain significance
rs749844651	8:99,140,652	C/G	—	uncertain significance
rs3824145	8:99,140,662	C/T	—	benign
rs1586230617	8:99,140,669	A/G	—	likely benign
rs748288309	8:99,140,691	C/T	—	uncertain significance
rs150791484	8:99,140,692	G/A	—	uncertain significance
rs199760739	8:99,140,700	C/T	—	pathogenic
rs753686790	8:99,140,701	G/A	—	uncertain significance
rs374710242	8:99,140,703	C/T	—	pathogenic
rs2130586701	8:99,140,709	G/A	—	uncertain significance
rs1469016290	8:99,140,713	T/C	—	uncertain significance
rs370950344	8:99,140,723	C/T	—	likely benign
rs1364201080	8:99,140,724	G/A	—	uncertain significance
rs747637737	8:99,140,731	G/A	—	uncertain significance
rs1816281097	8:99,140,770	T/C	—	likely pathogenic
rs768897731	8:99,140,781	C/T	—	likely benign
rs776715353	8:99,140,782	T/G	—	likely benign
rs1563773232	8:99,142,190	C/T	—	likely benign
rs570006227	8:99,142,200	C/T	—	conflicting classifications of pathogenicity
rs148946525	8:99,142,206	G/A	—	likely benign
rs143675510	8:99,142,207	C/T	—	uncertain significance
rs780356575	8:99,142,215	G/C	—	uncertain significance
rs748460495	8:99,142,217	C/T	—	likely benign
rs369456138	8:99,142,218	G/A	—	conflicting classifications of pathogenicity
rs776783985	8:99,142,222	A/G	—	uncertain significance
rs748243723	8:99,142,224	C/G	—	uncertain significance
rs146339637	8:99,142,263	C/A	—	likely benign
rs374877792	8:99,142,267	G/A	—	uncertain significance
rs146540699	8:99,142,275	A/G	—	uncertain significance
rs758854821	8:99,142,281	C/T	—	uncertain significance
rs140454290	8:99,142,285	C/T	—	uncertain significance
rs781451136	8:99,142,286	G/A	—	likely benign
rs763492180	8:99,142,299	C/T	—	uncertain significance
rs1466730210	8:99,142,300	G/A	—	uncertain significance
rs770082699	8:99,142,314	A/T	—	uncertain significance
rs200832245	8:99,142,343	C/T	—	likely benign
rs563607865	8:99,142,361	G/C	—	uncertain significance
rs766856891	8:99,142,387	G/C	—	uncertain significance
rs1816340386	8:99,142,394	G/A	—	likely benign
rs752108279	8:99,142,400	A/C	—	likely benign
rs142565164	8:99,142,418	C/G	—	likely benign
rs2488038507	8:99,142,420	G/C	—	uncertain significance
rs749378397	8:99,142,425	C/T	—	pathogenic
rs778974957	8:99,142,435	C/T	—	uncertain significance
rs148502433	8:99,142,441	G/A	—	uncertain significance
rs373854633	8:99,142,444	G/A	—	uncertain significance
rs761289283	8:99,142,453	A/T	—	uncertain significance
rs73701266	8:99,145,948	G/A	—	benign
rs73701267	8:99,146,104	C/T	—	benign
rs373066155	8:99,146,165	C/T	—	likely benign
rs201593014	8:99,146,166	G/A	—	likely benign
rs2488047074	8:99,146,210	G/A	—	uncertain significance
rs2488047186	8:99,146,232	A/G	—	uncertain significance
rs747730830	8:99,146,235	C/T	—	uncertain significance
rs767909397	8:99,146,236	G/A	—	likely benign
rs1170393896	8:99,146,250	G/T	—	uncertain significance
rs922686252	8:99,146,284	G/A	—	likely benign
rs73701268	8:99,146,507	T/A	—	benign
rs16896659	8:99,146,605	C/A	—	benign
rs73701269	8:99,146,662	C/T	—	benign
rs1816472081	8:99,146,688	T/C	—	uncertain significance
rs1442143865	8:99,146,707	G/A	—	likely benign

Showing 100 of 324 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.