The ERCC4 gene homepage

A Fanconi anemia mutation database.
General information
Gene symbol ERCC4
Gene name excision repair cross-complementing rodent repair deficiency, complementation group 4
Chromosome 16
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_011442.1
Transcript reference NM_005236.2
Exon/intron information NM_005236.2 exon/intron table
Associated with diseases FANCQ, ID, XFEPS, XPF
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 89
Unique public DNA variants reported 57
Individuals with public variants 374
Hidden variants 8
Notes Variants associated with Fanconi anemia
We gratefully acknowledge the work of Arleen Auerbach in establishing this database and curating it until 2019.
Date created April 05, 2011
Date last updated September 17, 2021
Version ERCC4:210917

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_005236.2.
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 https://www.LOVD.nl/ERCC4
External URL Fanconi anemia mutation databases homepage (Rockefeller University)
HGNC 3436
Entrez Gene 2072
PubMed articles ERCC4
OMIM - Gene 133520
OMIM - Diseases FANCQ (Fanconi anemia, complementation group Q (FANCQ))
XFEPS (progeroid syndrome, XFE (XFEPS))
XPF (xeroderma pigmentosum, complementation group F (XPF))
HGMD ERCC4
GeneCards ERCC4
GeneTests ERCC4
Orphanet ERCC4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000175 16 excision repair cross-complementing rodent repair deficiency, complementation group 4 NM_005236.2 NP_005227.1 89


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 © 2011-2021. 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.