ERCC8 gene homepage

General information
Gene symbol ERCC8
Gene name excision repair cross-complementation group 8
Chromosome 5
Chromosomal band q12.1
Imprinted Unknown
Genomic reference LRG_466
Transcript reference NM_000082.3
Associated with diseases CS
Citation reference(s) -
Curators (1) Y Yang
Total number of public variants reported 26
Unique public DNA variants reported 24
Individuals with public variants 25
Hidden variants 0
Date created December 14, 2014
Date last updated June 29, 2017
Version ERCC8:170629

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
External URL LRG_466
HGNC 3439
Entrez Gene 1161
PubMed articles ERCC8
OMIM - Gene 609412
OMIM - Diseases CS (Cockayne Syndrome)
HGMD ERCC8
GeneCards ERCC8
GeneTests ERCC8


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000038 5 excision repair cross-complementing rodent repair deficiency, complementation group 8 NM_000082.3 NP_000073.1 26


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 © 2014-2020. 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.