PAX2 homepage - PAX2 variant database - Leiden Open Variation Database

General information
Gene name	paired box 2
Gene symbol	PAX2
Chromosome Location	10q24.31
Database location	grenada.lumc.nl
Curator	Matthew Bower
Database reference for citations	PMID8431641 PMID7981748
PubMed references	View all (unique) PubMed references in the PAX2 database
Date of creation	April 29, 2010
Last update	June 21, 2018
Version	PAX2 180621
Add sequence variant	Submit a sequence variant
First time submitters	Register here
Reference sequence file	Genomic reference sequence for describing sequence variants
Genomic refseq ID	NG_008680.1
Transcript refseq ID	NM_003990.3
Exon/intron information	Exon/intron information table
Total number of unique DNA variants reported	92
Total number of individuals with variant(s)	258
Total number of variants reported	263
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Graphical displays and utilities
Summary tables	Summary of all sequence variants in the PAX2 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
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 PAX2 database, without patient data
Complete sequence variant listing	Listing of all sequence variants in the PAX2 database
Variants with no known pathogenicity	Listing of all PAX2 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

PAX2 variant database