The ERCC2 gene homepage

General information
Gene symbol ERCC2
Gene name excision repair cross-complementing rodent repair deficiency, complementation group 2
Chromosome 19
Chromosomal band q13.3
Imprinted Unknown
Genomic reference NG_007067.2
Transcript reference NM_000400.3
Exon/intron information NM_000400.3 exon/intron table
Associated with diseases COFS2, ID, TTD, TTD1, XPD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 156
Unique public DNA variants reported 121
Individuals with public variants 19
Hidden variants 15
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created October 09, 2008
Date last updated January 11, 2023
Version ERCC2:230111

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_000400.3.
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
HGNC 3434
Entrez Gene 2068
PubMed articles ERCC2
OMIM - Gene 126340
OMIM - Diseases COFS2 (cerebrooculofacioskeletal syndrome, type 2 (COFS-2)
TTD1 (trichothiodystrophy, type 1, photosentitive (TTD-1))
XPD (xeroderma pigmentosum, complementation group D (XPD))
GeneCards ERCC2
GeneTests ERCC2
Orphanet ERCC2

Active transcripts




NCBI ID     

NCBI Protein ID     

00007206 19 transcript variant 1 NM_000400.3 NP_000391.1 156

Copyright & disclaimer
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