The PRPF8 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol PRPF8
Gene name PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)
Chromosome 17
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_009118.1
Transcript reference NM_006445.3
Exon/intron information NM_006445.3 exon/intron table
Associated with diseases RP13
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Kerry Goetz and Robert Hufnagel
Total number of public variants reported 381
Unique public DNA variants reported 189
Individuals with public variants 461
Hidden variants 11
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created July 04, 2012
Date last updated April 19, 2024
Version PRPF8:240419

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_006445.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/PRPF8
HGNC 17340
Entrez Gene 10594
PubMed articles PRPF8
OMIM - Gene 607300
OMIM - Diseases RP13 (retinitis pigmentosa, type 13 (RP13))
HGMD PRPF8
GeneCards PRPF8
GeneTests PRPF8
Orphanet PRPF8


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00016899 17 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) NM_006445.3 NP_006436.3 381


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