ERCC4 gene homepage

General information
Gene symbol ERCC4
Gene name ERCC excision repair 4, endonuclease catalytic subunit
Chromosome 16
Chromosomal band p13.12
Imprinted Unknown
Genomic reference LRG_463
Transcript reference NM_005236.2
Associated with diseases FANCQ, XFEPS, XPF
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 183
Unique public DNA variants reported 62
Individuals with public variants 201
Hidden variants 0
Date created May 20, 2020
Date last updated September 17, 2020
Version ERCC4:200917

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
HGNC 3436
Entrez Gene 2072
PubMed articles ERCC4
OMIM - Gene 133520
OMIM - Diseases FANCQ (Fanconi anemia, complementation group Q)
XFEPS (XFE PROGEROID SYNDROME)
XPF (Xeroderma pigmentosum, group F)


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000058 16 excision repair cross-complementing rodent repair deficiency, complementation group 4 NM_005236.2 NP_005227.1 183


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