The PRPF6 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol PRPF6
Gene name PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae)
Chromosome 20
Chromosomal band q13.33
Imprinted Unknown
Genomic reference NG_029719.1
Transcript reference NM_012469.3
Exon/intron information NM_012469.3 exon/intron table
Associated with diseases RP60
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 95
Unique public DNA variants reported 79
Individuals with public variants 65
Hidden variants 4
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 performed by Johan den Dunnen, supported by Global Variome.
Date created July 13, 2012
Date last updated February 26, 2024
Version PRPF6:240226

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_012469.3.
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/PRPF6
HGNC 15860
Entrez Gene 24148
PubMed articles PRPF6
OMIM - Gene 613979
OMIM - Diseases RP60 (retinitis pigmentosa, type 60 (RP60))
HGMD PRPF6
GeneCards PRPF6
GeneTests PRPF6
Orphanet PRPF6


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00016898 20 PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) NM_012469.3 NP_036601.2 95


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