View ERCC6 gene homepage

General information
Gene symbol ERCC6
Gene name excision repair cross-complementing rodent repair deficiency, complementation group 6
Chromosome 10
Chromosomal band q11
Imprinted Unknown
Genomic reference NG_009442.1
Transcript reference NM_000124.2
Exon/intron information NM_000124.2
Associated with diseases ARMD-5, cancer, lung, COFS-1, CSB, ID, UVSS, De Sanctis-Cacchione syndrome
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 8
Unique public DNA variants reported 6
Individuals with public variants 10
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated October 23, 2016
Version ERCC6:161023

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
External URL Orphanet
HGNC 3438
Entrez Gene 2074
PubMed articles ERCC6
OMIM - Gene 609413
OMIM - Diseases ARMD-5 (macular degeneration, age-related, type 5 (ARMD-5))
cancer, lung (cancer, lung (adenocarcinoma))
COFS-1 (cerebrooculofacioskeletal syndrome, type 1 (COFS-1)
CSB (Cockayne syndrome, type B (CSB))
UVSS (UV-sensitive syndrome (UVSS))
De Sanctis-Cacchione syndrome
GeneCards ERCC6
GeneTests ERCC6

Active transcripts




NCBI ID     

NCBI Protein ID     

00000177 10 excision repair cross-complementing rodent repair deficiency, complementation group 6 NM_000124.2 NP_000115.1 8

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 © 2011-2016. 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.