LOVD SOX2 homepage

General information
Gene name SRY (sex determining region Y)-box 2
Gene symbol SOX2
Chromosome Location 3q26.3-q27
Database location MRC Human Genetics Unit
Curator Graeme Grimes, Isabel Hanson, David FitzPatrick, Kathy Williamson and Veronica van Heyningen
PubMed references View all (unique) PubMed references in the SOX2 database
Date of creation December 20, 2007
Last update October 31, 2014
Version SOX2 141031
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Reference sequence coding DNA reference sequence for describing sequence variants
Total number of unique DNA variants reported 71
Total number of individuals with variant(s) 107
Total number of variants reported 108
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NOTE The reference SOX2 cDNA sequence is NM_003106.2. Please click on 'SOX2 Full Legend' at the bottom of the table of variants for more information about the nucleotide numbering system used in this database.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the SOX2 database, sorted by type of variant (with graphical displays and statistics)

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the SOX2 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the SOX2 database
Variants with no known pathogenicity Listing of all SOX2 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the SOX2 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 6657
OMIM - Gene 184429
HGMD SOX2
GeneTests SOX2

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 © 2014. 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.