PRPF3

pre-mRNA processing factor 3

Summary

The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq, Jul 2008]

Known Variants315 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1694377	1:150,293,153	A/G	upstream gene variant	—
rs868986702	1:150,293,951	G/A	—	uncertain significance
rs3767630	1:150,293,957	A/G	—	likely benign
rs886045259	1:150,293,972	T/C	—	uncertain significance
rs1655040946	1:150,294,010	C/T	—	uncertain significance
rs35437473	1:150,297,233	C/A	—	benign
rs60758881	1:150,297,241	T/C	—	benign
rs782747350	1:150,297,351	A/T	—	uncertain significance
rs2101943440	1:150,297,411	C/T	—	uncertain significance
rs1395340408	1:150,297,443	A/G	—	uncertain significance
rs782581512	1:150,297,448	G/A	—	likely benign
rs782344383	1:150,297,487	G/A	—	likely benign
rs2101943634	1:150,297,502	A/T	—	likely benign
rs1553863345	1:150,297,508	C/T	—	likely benign
rs1156380082	1:150,297,523	C/T	—	likely benign
rs781967322	1:150,297,527	G/A	—	uncertain significance
rs375882146	1:150,297,528	A/G	—	uncertain significance
rs370220628	1:150,297,544	C/T	—	likely benign
rs782165190	1:150,297,549	T/A	—	uncertain significance
rs1363821930	1:150,297,551	T/C	—	uncertain significance
rs34964511	1:150,298,015	C/T	—	benign
rs2525057767	1:150,298,189	A/G	—	likely benign
rs782711311	1:150,298,191	C/T	—	likely benign
rs11205362	1:150,298,192	G/A	—	benign
rs1163076948	1:150,298,204	G/T	—	likely benign
rs782061609	1:150,298,245	G/A	—	uncertain significance
rs2525058351	1:150,298,267	G/C	—	uncertain significance
rs2101946351	1:150,298,298	T/G	—	uncertain significance
rs1490021465	1:150,298,306	T/C	—	likely benign
rs199638866	1:150,298,310	A/G	—	uncertain significance
rs782194993	1:150,298,329	G/A	—	uncertain significance
rs782538822	1:150,298,330	A/G	—	likely benign
rs1553863628	1:150,298,349	A/G	—	likely benign
rs1361022143	1:150,298,351	T/C	—	likely benign
rs2101946482	1:150,298,353	T/C	—	likely benign
rs698914	1:150,298,750	A/T	—	—
rs834225	1:150,300,727	T/C	—	benign
rs782744286	1:150,300,774	C/T	—	likely benign
rs2525078333	1:150,300,794	G/A	—	uncertain significance
rs148554092	1:150,300,800	G/C	—	uncertain significance
rs2525078742	1:150,300,837	G/A	—	uncertain significance
rs782508157	1:150,300,846	G/A	—	uncertain significance
rs1553864412	1:150,300,868	G/C	—	uncertain significance
rs782221917	1:150,300,869	C/A	—	uncertain significance
rs59082627	1:150,300,880	C/T	—	benign
rs140205822	1:150,300,892	A/C	—	likely benign
rs782269340	1:150,300,901	C/T	—	likely benign
rs2101954619	1:150,300,907	C/A	—	likely benign
rs782429913	1:150,300,916	T/C	—	likely benign
rs1254617186	1:150,300,932	G/A	—	likely benign
rs1260405	1:150,304,781	A/G	intron variant	—
rs59317452	1:150,305,135	A/G	—	uncertain significance
rs2101970522	1:150,305,175	A/G	—	likely benign
rs913982847	1:150,305,190	C/T	—	likely benign
rs2525115733	1:150,305,193	G/A	—	likely benign
rs781799639	1:150,305,202	A/G	—	likely benign
rs2525115891	1:150,305,214	C/T	—	likely benign
rs1282813411	1:150,305,218	A/G	—	uncertain significance
rs782509534	1:150,305,224	C/T	—	uncertain significance
rs2525116191	1:150,305,228	C/G	—	uncertain significance
rs145528866	1:150,305,229	T/A	—	benign
rs782231541	1:150,305,230	A/G	—	uncertain significance
rs1656552502	1:150,305,231	C/T	—	uncertain significance
rs146995242	1:150,305,232	A/G	—	conflicting classifications of pathogenicity
rs2525116411	1:150,305,250	A/G	—	uncertain significance
rs373033761	1:150,305,437	C/G	—	conflicting classifications of pathogenicity
rs1656584638	1:150,305,440	T/A	—	likely benign
rs781839797	1:150,305,441	A/G	—	likely benign
rs2101971498	1:150,305,443	C/T	—	likely benign
rs1271540038	1:150,305,460	C/T	—	uncertain significance
rs1656586815	1:150,305,462	T/C	—	uncertain significance
rs782539329	1:150,305,476	A/G	—	likely benign
rs2101971611	1:150,305,479	A/G	—	likely benign
rs375363471	1:150,305,481	G/A	—	uncertain significance
rs2525118902	1:150,305,486	C/T	—	uncertain significance
rs782390782	1:150,305,543	G/A	—	uncertain significance
rs782615526	1:150,305,569	G/A	—	likely benign
rs1553866173	1:150,305,607	G/A	—	uncertain significance
rs376095546	1:150,305,614	C/T	—	likely benign
rs961027754	1:150,305,615	G/A	—	uncertain significance
rs370145502	1:150,305,619	A/G	—	likely benign
rs781897722	1:150,305,647	C/T	—	likely benign
rs2525120170	1:150,305,656	G/A	—	uncertain significance
rs1233938711	1:150,305,665	T/C	—	likely benign
rs782062577	1:150,305,670	C/T	—	uncertain significance
rs781904808	1:150,305,686	A/G	—	likely benign
rs1260406	1:150,305,863	C/A	—	benign
rs1260408	1:150,307,270	T/G	—	benign
rs1656809242	1:150,307,386	C/A	—	likely benign
rs587746193	1:150,307,391	C/T	—	likely benign
rs1656810771	1:150,307,410	G/A	—	uncertain significance
rs587619488	1:150,307,430	G/A	—	likely benign
rs80201355	1:150,307,457	G/A	—	conflicting classifications of pathogenicity
rs782088671	1:150,307,463	G/A	—	conflicting classifications of pathogenicity
rs2525135273	1:150,307,464	C/T	—	uncertain significance
rs587699756	1:150,307,469	T/C	—	likely benign
rs1553866848	1:150,307,470	G/A	—	uncertain significance
rs958240141	1:150,307,478	A/G	—	likely benign
rs1553866860	1:150,307,491	A/G	—	uncertain significance
rs2101978317	1:150,307,493	T/C	—	likely benign

Showing 100 of 315 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.