The ERCC8 gene homepage

General information
Gene symbol ERCC8
Gene name excision repair cross-complementing rodent repair deficiency, complementation group 8
Chromosome 5
Chromosomal band q12.1
Imprinted Unknown
Genomic reference NG_009289.1
Transcript reference NM_000082.3
Exon/intron information NM_000082.3 exon/intron table
Associated with diseases CS, CSA, ID, UVSS2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 36
Unique public DNA variants reported 29
Individuals with public variants 30
Hidden variants 3
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 29, 2010
Date last updated March 06, 2023
Version ERCC8:230306

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_000082.3.
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/ERCC8
HGNC 3439
Entrez Gene 1161
PubMed articles ERCC8
OMIM - Gene 609412
OMIM - Diseases CSA (Cockayne syndrome, type A (CSA))
UVSS2 (UV-sensitive syndrome, type 2 (UVSS-2))
HGMD ERCC8
GeneCards ERCC8
GeneTests ERCC8
Orphanet ERCC8


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000962 5 transcript variant 1 NM_000082.3 NP_000073.1 36


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