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Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
General information
Gene symbol PALB2
Gene name partner and localizer of BRCA2
Chromosome 16
Chromosomal band p12.1
Imprinted Unknown
Genomic reference NG_007406.1
Transcript reference NM_024675.3
Exon/intron information NM_024675.3
Associated with diseases FANCN, PNCA-3, cancer, breast, familial
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Marc Tischkowitz and Arleen D. Auerbach (curator for FA)
Total number of public variants reported 849
Unique public DNA variants reported 331
Individuals with public variants 2019
Hidden variants 0
Notes Reference sequence NG_007406.1 is identical to LRG_308
Variants associated with Fanconi anemia
Date created October 08, 2007
Date last updated July 12, 2016
Version PALB2:160712

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/PALB2
External URL Fanconi anemia mutation databases homepage (Rockefeller University)
The PALB2 interest group
Orphanet
HGNC 26144
Entrez Gene 79728
PubMed articles PALB2
OMIM - Gene 610355
OMIM - Diseases FANCN (Fanconi anemia, complementation group N (FANCN))
PNCA-3 (cancer, pancreatic, susceptibility to, type 3 (PNCA-3))
cancer, breast, familial
HGMD PALB2
GeneCards PALB2
GeneTests PALB2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00015623 16 partner and localizer of BRCA2 NM_024675.3 NP_078951.2 849


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 © 2007-2016. 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.