The 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 exon/intron table
Associated with diseases ARMD5, cancer, lung, COFS1, CS, CSB, ID, POF11, UVSS, De Sanctis-Cacchione syndrome
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 194
Unique public DNA variants reported 144
Individuals with public variants 44
Hidden variants 15
Download all this gene's data Download all data
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 February 26, 2024
Version ERCC6:240226

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_000124.2.
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 http://www.LOVD.nl/ERCC6
HGNC 3438
Entrez Gene 2074
PubMed articles ERCC6
OMIM - Gene 609413
OMIM - Diseases ARMD5 (macular degeneration, age-related, type 5 (ARMD-5))
cancer, lung (cancer, lung (adenocarcinoma))
COFS1 (cerebrooculofacioskeletal syndrome, type 1 (COFS-1)
CSB (Cockayne syndrome, type B (CSB))
POF11 (ovarian failure, premature, type 11)
UVSS (UV-sensitive syndrome (UVSS))
De Sanctis-Cacchione syndrome
HGMD ERCC6
GeneCards ERCC6
GeneTests ERCC6
Orphanet ERCC6


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000177 10 excision repair cross-complementing rodent repair deficiency, complementation group 6 NM_000124.2 NP_000115.1 194


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