LOVD FANCN homepage

General information
Gene name Partner and localizer of BRCA2 (PALB2)
Gene symbol FANCN
Chromosome Location 16p12.1
Database location chromium.liacs.nl
Curator Arleen Auerbach
PubMed references View all (unique) PubMed references in the FANCN database
Date of creation October 08, 2007
Last update May 25, 2012
Version FANCN120525
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_007406.1
Transcript refseq ID NM_024675.3
Total number of unique DNA variants reported 16
Total number of individuals with variant(s) 9
Total number of variants reported 18
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NOTE Reference sequence NG_007406,1 is identical to LRG_308.
This database contains only PALB2 variants related to Fanconi Anemia. For other variants see the PALB2 gene variant database

Graphical displays and utilities
Summary tables Summary of all sequence variants in the FANCN 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 (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 FANCN database, without patient data
Complete sequence variant listing Listing of all sequence variants in the FANCN database
Variants with no known pathogenicity Listing of all FANCN 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
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
Homepage http://www.rockefeller.edu/fanconi/mutate/jumpn.php
HGNC 26144
Entrez Gene 79728
OMIM - Gene 610355
OMIM - Disease Fanconi anemia, complementation group N (FANCN)
UniProtKB (SwissProt/TrEMBL) Q86YC2
HGMD FANCN
GeneCards FANCN
GeneTests FANCN
External link Orphanet

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.