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 256
Unique public DNA variants reported 97
Individuals with public variants 278
Hidden variants 0
Date created May 20, 2020
Date last updated September 17, 2020
Version ERCC5:200917

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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


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000059 13 excision repair cross-complementing rodent repair deficiency, complementation group 5 NM_000123.3 NP_000114.2 256


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