This database has been closed to new submissions.

The date of last curation was 07 June 2017 and the 'last update' on 04 August 2018 was a partial and uncurated update.

LOVD PAX6 homepage

General information
Gene name Paired box gene 6
Gene symbol PAX6
Chromosome Location 11p13
Database location MRC Human Genetics Unit
Curator Graeme Grimes, Isabel Hanson, Kathy Williamson and Veronica van Heyningen
Database reference for citations If you use the information in this database, please cite the following link:
PubMed references View all (unique) PubMed references in the PAX6 database
Date of creation August 20, 2007
Last update August 04, 2018
Version PAX6 180804
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence coding DNA reference sequence for describing sequence variants
GenBank reference NG_008679
Total number of unique DNA variants reported 491
Total number of individuals with variant(s) 1067
Total number of variants reported 1088
Subscribe to updates of this gene
NOTE The reference cDNA sequence for this Database is NM_000280.3. Please click on 'PAX6 full legend' at the bottom of the table of variants for information about nucleotide and exon numbering.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the PAX6 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
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 PAX6 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the PAX6 database
Variants with no known pathogenicity Listing of all PAX6 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the PAX6 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
Entrez Gene 5080
OMIM - Gene 607108
GeneTests PAX6

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2023. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.