PRPF8

pre-mRNA processing factor 8

Summary

Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]

Known Variants1,205 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75390630017:1,553,929T/C—uncertain significance
rs15104570317:1,553,971C/T—likely benign
rs75888991017:1,554,024G/C—uncertain significance
rs77696293917:1,554,060G/A—uncertain significance
rs76791581817:1,554,085C/A—uncertain significance
rs14794124717:1,554,094G/A—likely benign
rs77843868517:1,554,097C/G—pathogenic
rs136784943017:1,554,099G/A—likely benign
rs75790617317:1,554,102A/C—conflicting classifications of pathogenicity
rs119360466017:1,554,104A/T—pathogenic
rs78003992517:1,554,105C/T—likely benign
rs116200992317:1,554,108G/T—uncertain significance
rs254370947417:1,554,110C/A—uncertain significance
rs159722322017:1,554,113C/A—likely pathogenic
rs119269335417:1,554,115C/G—uncertain significance
rs76855156517:1,554,120C/T—likely benign
rs77651909917:1,554,121G/A—uncertain significance
rs254370953317:1,554,123A/G—likely benign
rs77336389017:1,554,126G/C—pathogenic
rs215110893717:1,554,136C/T—uncertain significance
rs191099758817:1,554,137C/A—uncertain significance
rs76640726617:1,554,138C/A—conflicting classifications of pathogenicity
rs77481486717:1,554,142T/A—uncertain significance
rs254370961617:1,554,143G/A—likely pathogenic
rs97907657117:1,554,145A/C—uncertain significance
rs191099889817:1,554,147G/C—likely benign
rs92593139017:1,554,149G/A—uncertain significance
rs102706987317:1,554,155A/T—uncertain significance
rs215110895717:1,554,156G/A—likely benign
rs191100071517:1,554,162G/C—pathogenic
rs191100094417:1,554,163A/G—pathogenic
rs130184767617:1,554,165G/A—likely benign
rs155555004517:1,554,166T/C—conflicting classifications of pathogenicity
rs254370978017:1,554,173G/A—uncertain significance
rs191100185417:1,554,174C/G—pathogenic
rs12143423817:1,554,175C/Tmissense variantpathogenic
rs75299722917:1,554,176T/C—pathogenic
rs12143423617:1,554,178T/Cmissense variantpathogenic
rs215110898517:1,554,179G/C—uncertain significance
rs75648900417:1,554,186G/C—uncertain significance
rs12143424017:1,554,192G/Cmissense variantpathogenic
rs191100441917:1,554,194A/G—likely pathogenic
rs77948184617:1,554,196T/C—uncertain significance
rs104414883717:1,554,198T/G—uncertain significance
rs215110901217:1,554,202G/A—uncertain significance
rs12143423917:1,554,203G/Amissense variantpathogenic
rs14176232117:1,554,204G/A—likely benign
rs254370995917:1,554,206T/C—uncertain significance
rs37531964517:1,554,207C/T—likely benign
rs74794269617:1,554,208G/A—uncertain significance
rs254370999317:1,554,209C/T—uncertain significance
rs254371001017:1,554,213C/T—likely benign
rs76954250717:1,554,219C/T—likely benign
rs77948871917:1,554,222A/G—likely benign
rs99387420217:1,554,232T/C—uncertain significance
rs129388305917:1,554,245G/A—uncertain significance
rs37438778717:1,554,253T/G—likely benign
rs7599632317:1,554,254C/T—benign
rs76440871417:1,554,255G/A—likely benign
rs57349301717:1,554,264G/T—conflicting classifications of pathogenicity
rs159722345817:1,554,265A/T—likely benign
rs254371091517:1,554,399T/G—uncertain significance
rs254371094117:1,554,403C/T—uncertain significance
rs191102960117:1,554,417T/C—conflicting classifications of pathogenicity
rs215110922917:1,554,418C/A—uncertain significance
rs14705023417:1,554,421C/T—likely benign
rs132747885517:1,554,422G/A—uncertain significance
rs159722372117:1,554,434G/A—uncertain significance
rs101846706617:1,554,436G/A—likely benign
rs75596269717:1,554,454G/A—conflicting classifications of pathogenicity
rs191103329817:1,554,460G/A—likely benign
rs215110927917:1,554,462C/G—likely benign
rs36939128417:1,554,463C/T—conflicting classifications of pathogenicity
rs191103377417:1,554,464G/A—likely benign
rs75710571017:1,554,468G/A—likely benign
rs77910822617:1,554,469C/T—likely benign
rs88605261117:1,554,472C/T—uncertain significance
rs254371114717:1,554,477G/A—likely pathogenic
rs74613238517:1,554,487A/G—likely benign
rs37207595717:1,554,493T/A—likely benign
rs75959886817:1,554,505G/A—conflicting classifications of pathogenicity
rs74845692217:1,554,514G/A—likely benign
rs77032240517:1,554,515T/C—uncertain significance
rs77412315217:1,554,520G/A—likely benign
rs76764592317:1,554,523C/T—likely benign
rs20016472217:1,554,538G/A—likely benign
rs191103986217:1,554,549C/T—uncertain significance
rs191104033717:1,554,553G/C—likely benign
rs76024144317:1,554,559G/A—likely benign
rs254371134317:1,554,565C/T—likely benign
rs36842591417:1,554,577C/T—likely benign
rs75388475917:1,554,586A/G—likely benign
rs98844217317:1,554,589G/A—likely benign
rs127096260017:1,554,592G/A—likely benign
rs20074129417:1,554,598C/T—conflicting classifications of pathogenicity
rs146783810217:1,554,607G/T—conflicting classifications of pathogenicity
rs76510576217:1,554,617C/T—likely benign
rs78032898917:1,554,618G/A—likely benign
rs74700385217:1,554,623C/G—likely benign
rs94113549217:1,554,694G/A—likely benign

Showing 100 of 1,205 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.