The ERCC5 gene homepage

General information
Gene symbol ERCC5
Gene name excision repair cross-complementing rodent repair deficiency, complementation group 5
Chromosome 13
Chromosomal band q22-q34
Imprinted Unknown
Genomic reference NG_007146.1
Transcript reference NM_000123.2
Associated with diseases COFS-3, ID, XPG
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 9
Unique public DNA variants reported 6
Individuals with public variants 210
Hidden variants 0
Download all this gene's data Download all data
Notes 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.
Date created April 05, 2011
Date last updated July 04, 2020
Version ERCC5:200704

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 https://www.LOVD.nl/ERCC5
External URL Orphanet
HGNC 3437
Entrez Gene 2073
PubMed articles ERCC5
OMIM - Gene 133530
OMIM - Diseases XPG (xeroderma pigmentosum, complementation group G (XPG))
HGMD ERCC5
GeneCards ERCC5
GeneTests ERCC5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000176 13 excision repair cross-complementing rodent repair deficiency, complementation group 5 (expired, new version available) NM_000123.2 NP_000114.2 9


Copyright & disclaimer
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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.