LOVD PINK1 homepage

General information
Gene name PTEN-INDUCED PUTATIVE KINASE 1
Gene symbol PINK1
Chromosome Location 1p36
Database location The Parkinson's Institute
Curator The Parkinson's Institute
PubMed references View all (unique) PubMed references in the PINK1 database
Date of creation May 27, 2008
Last update May 31, 2012
Version PINK1 120531
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GenBank reference NM_032409
Transcript refseq ID NM_032409.2
Total number of unique DNA variants reported 63
Total number of individuals with variant(s) 2
Total number of variants reported 2
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the PINK1 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the PINK1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the PINK1 database
Variants with no known pathogenicity Listing of all PINK1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

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
HGNC 14581
OMIM - Gene 608309
OMIM - Disease PARK6
HGMD PINK1
GeneTests PINK1
External link Orphanet