LOVD PRF1 homepage

General information
Gene name perforin 1 (pore forming protein)
Gene symbol PRF1
Chromosome Location 10q22
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the PRF1 database
Date of creation April 20, 2010
Last update December 16, 2011
Version PRF1 111216
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_009615.1
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 97
Total number of individuals with variant(s) 3
Total number of variants reported 101
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the PRF1 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the PRF1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the PRF1 database
Variants with no known pathogenicity Listing of all PRF1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the PRF1 database in tab-delimited text format.

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
External link PRF1base: Mutation registry for Familiar haemophagocytic lymphohistiocytosis, type II (FHL2) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
HGNC 9360
Entrez Gene 5551
OMIM - Gene 170280
UniProtKB (SwissProt/TrEMBL) P14222
HGMD PRF1
GeneCards PRF1
GeneTests PRF1