PAX6 homepage - MRC Human Genetics Unit LOVD at MRC IGMM

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

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: http://lsdb.hgu.mrc.ac.uk/home.php?select_db=PAX6
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
HGMD	PAX6
GeneTests	PAX6

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 © 2022. 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.

MRC Human Genetics Unit LOVD at MRC IGMM

Paired box gene 6 (PAX6)