LRRK2 homepage - Parkinson's disease Mutation Database - Leiden Open Variation Database

Parkinson's disease Mutation Database

LEUCINE-RICH REPEAT KINASE 2 (LRRK2)

LOVD v.2.0 Build 36 [ Current LOVD status ]
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Curator: The Parkinson's Institute

General information
Gene name	LEUCINE-RICH REPEAT KINASE 2
Gene symbol	LRRK2
Chromosome Location	12q12
Database location	The Parkinson's Institute
Curator	The Parkinson's Institute
PubMed references	View all (unique) PubMed references in the LRRK2 database
Date of creation	May 27, 2008
Last update	June 04, 2012
Version	LRRK2 120604
Add sequence variant	Submit a sequence variant
First time submitters	Register here
GenBank reference	NM_198578
Transcript refseq ID	NM_198578.3
Total number of unique DNA variants reported	26
Total number of individuals with variant(s)	159
Total number of variants reported	159
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Graphical displays and utilities
Summary tables	Summary of all sequence variants in the LRRK2 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 LRRK2 database, without patient data
Complete sequence variant listing	Listing of all sequence variants in the LRRK2 database
Variants with no known pathogenicity	Listing of all LRRK2 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	18618
OMIM - Gene	609007
OMIM - Disease	PARK8
HGMD	LRRK2
GeneTests	LRRK2
External link	Orphanet