ERCC5 gene homepage

General information
Gene symbol ERCC5
Gene name ERCC excision repair 5, endonuclease
Chromosome 13
Chromosomal band q33.1
Imprinted Unknown
Genomic reference LRG_464
Transcript reference NM_000123.3
Associated with diseases COFS3, XPG
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 422
Unique public DNA variants reported 103
Individuals with public variants 377
Hidden variants 0
Date created May 20, 2020
Date last updated May 16, 2022
Version ERCC5:220516

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
HGNC 3437
Entrez Gene 2073
PubMed articles ERCC5
OMIM - Gene 133530
OMIM - Diseases COFS3 (Cerebrooculofacioskeletal syndrome 3)
XPG (Xeroderma pigmentosum, group G)

Active transcripts




NCBI ID     

NCBI Protein ID     

00000059 13 excision repair cross-complementing rodent repair deficiency, complementation group 5 NM_000123.3 NP_000114.2 422

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 © 2020-2024. 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.