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

rsidPosition (GRCh37)AllelesClassClinVar
rs16943771:150,293,153A/Gupstream gene variant—
rs8689867021:150,293,951G/A—uncertain significance
rs37676301:150,293,957A/G—likely benign
rs8860452591:150,293,972T/C—uncertain significance
rs16550409461:150,294,010C/T—uncertain significance
rs354374731:150,297,233C/A—benign
rs607588811:150,297,241T/C—benign
rs7827473501:150,297,351A/T—uncertain significance
rs21019434401:150,297,411C/T—uncertain significance
rs13953404081:150,297,443A/G—uncertain significance
rs7825815121:150,297,448G/A—likely benign
rs7823443831:150,297,487G/A—likely benign
rs21019436341:150,297,502A/T—likely benign
rs15538633451:150,297,508C/T—likely benign
rs11563800821:150,297,523C/T—likely benign
rs7819673221:150,297,527G/A—uncertain significance
rs3758821461:150,297,528A/G—uncertain significance
rs3702206281:150,297,544C/T—likely benign
rs7821651901:150,297,549T/A—uncertain significance
rs13638219301:150,297,551T/C—uncertain significance
rs349645111:150,298,015C/T—benign
rs25250577671:150,298,189A/G—likely benign
rs7827113111:150,298,191C/T—likely benign
rs112053621:150,298,192G/A—benign
rs11630769481:150,298,204G/T—likely benign
rs7820616091:150,298,245G/A—uncertain significance
rs25250583511:150,298,267G/C—uncertain significance
rs21019463511:150,298,298T/G—uncertain significance
rs14900214651:150,298,306T/C—likely benign
rs1996388661:150,298,310A/G—uncertain significance
rs7821949931:150,298,329G/A—uncertain significance
rs7825388221:150,298,330A/G—likely benign
rs15538636281:150,298,349A/G—likely benign
rs13610221431:150,298,351T/C—likely benign
rs21019464821:150,298,353T/C—likely benign
rs6989141:150,298,750A/T——
rs8342251:150,300,727T/C—benign
rs7827442861:150,300,774C/T—likely benign
rs25250783331:150,300,794G/A—uncertain significance
rs1485540921:150,300,800G/C—uncertain significance
rs25250787421:150,300,837G/A—uncertain significance
rs7825081571:150,300,846G/A—uncertain significance
rs15538644121:150,300,868G/C—uncertain significance
rs7822219171:150,300,869C/A—uncertain significance
rs590826271:150,300,880C/T—benign
rs1402058221:150,300,892A/C—likely benign
rs7822693401:150,300,901C/T—likely benign
rs21019546191:150,300,907C/A—likely benign
rs7824299131:150,300,916T/C—likely benign
rs12546171861:150,300,932G/A—likely benign
rs12604051:150,304,781A/Gintron variant—
rs593174521:150,305,135A/G—uncertain significance
rs21019705221:150,305,175A/G—likely benign
rs9139828471:150,305,190C/T—likely benign
rs25251157331:150,305,193G/A—likely benign
rs7817996391:150,305,202A/G—likely benign
rs25251158911:150,305,214C/T—likely benign
rs12828134111:150,305,218A/G—uncertain significance
rs7825095341:150,305,224C/T—uncertain significance
rs25251161911:150,305,228C/G—uncertain significance
rs1455288661:150,305,229T/A—benign
rs7822315411:150,305,230A/G—uncertain significance
rs16565525021:150,305,231C/T—uncertain significance
rs1469952421:150,305,232A/G—conflicting classifications of pathogenicity
rs25251164111:150,305,250A/G—uncertain significance
rs3730337611:150,305,437C/G—conflicting classifications of pathogenicity
rs16565846381:150,305,440T/A—likely benign
rs7818397971:150,305,441A/G—likely benign
rs21019714981:150,305,443C/T—likely benign
rs12715400381:150,305,460C/T—uncertain significance
rs16565868151:150,305,462T/C—uncertain significance
rs7825393291:150,305,476A/G—likely benign
rs21019716111:150,305,479A/G—likely benign
rs3753634711:150,305,481G/A—uncertain significance
rs25251189021:150,305,486C/T—uncertain significance
rs7823907821:150,305,543G/A—uncertain significance
rs7826155261:150,305,569G/A—likely benign
rs15538661731:150,305,607G/A—uncertain significance
rs3760955461:150,305,614C/T—likely benign
rs9610277541:150,305,615G/A—uncertain significance
rs3701455021:150,305,619A/G—likely benign
rs7818977221:150,305,647C/T—likely benign
rs25251201701:150,305,656G/A—uncertain significance
rs12339387111:150,305,665T/C—likely benign
rs7820625771:150,305,670C/T—uncertain significance
rs7819048081:150,305,686A/G—likely benign
rs12604061:150,305,863C/A—benign
rs12604081:150,307,270T/G—benign
rs16568092421:150,307,386C/A—likely benign
rs5877461931:150,307,391C/T—likely benign
rs16568107711:150,307,410G/A—uncertain significance
rs5876194881:150,307,430G/A—likely benign
rs802013551:150,307,457G/A—conflicting classifications of pathogenicity
rs7820886711:150,307,463G/A—conflicting classifications of pathogenicity
rs25251352731:150,307,464C/T—uncertain significance
rs5876997561:150,307,469T/C—likely benign
rs15538668481:150,307,470G/A—uncertain significance
rs9582401411:150,307,478A/G—likely benign
rs15538668601:150,307,491A/G—uncertain significance
rs21019783171:150,307,493T/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.