The XRCC2 gene homepage

A Fanconi anemia mutation database.
General information
Gene symbol XRCC2
Gene name X-ray repair complementing defective repair in Chinese hamster cells 2
Chromosome 7
Chromosomal band q36
Imprinted Unknown
Genomic reference NG_027988.2
Transcript reference NM_005431.1
Exon/intron information NM_005431.1 exon/intron table
Associated with diseases FANCU, POF17, SPGF50
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 229
Unique public DNA variants reported 167
Individuals with public variants 586
Hidden variants 0
Download all this gene's data Download all data
Notes Alias FANCU.
Variants associated with Fanconi anemia.
Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project. We gratefully acknowledge the efforts of Arleen Auerbach curating the variant linked to Fanconi Anemia (until end 2019).
Date created May 02, 2012
Date last updated June 23, 2020
Version XRCC2:200623

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_005431.1.
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
External URL Fanconi anemia mutation databases homepage (Rockefeller University)
HGNC 12829
Entrez Gene 7516
PubMed articles XRCC2
OMIM - Gene 600375
OMIM - Diseases FANCU (?Fanconi anemia, complementation group U)
POF17 (ovarian failure, premature, type 17)
SPGF50 (spermatogenic failure, type 50)
GeneCards XRCC2
GeneTests XRCC2
Orphanet XRCC2

Active transcripts




NCBI ID     

NCBI Protein ID     

00022938 7 X-ray repair complementing defective repair in Chinese hamster cells 2 NM_005431.1 NP_005422.1 229

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2012-2022. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.