LOVD PAX2 homepage

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
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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

Links to other resources
HGNC 8616
Entrez Gene 5076
OMIM - Gene 167409
UniProtKB (SwissProt/TrEMBL) Q02962
External link Orphanet