ERCC3 gene homepage

General information
Gene symbol ERCC3
Gene name ERCC excision repair 3, TFIIH core complex helicase subunit
Chromosome 2
Chromosomal band q14.3
Imprinted Unknown
Genomic reference LRG_462
Transcript reference NM_000122.1
Associated with diseases TTD2, XPB
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 215
Unique public DNA variants reported 74
Individuals with public variants 239
Hidden variants 0
Date created May 20, 2020
Date last updated October 07, 2020
Version ERCC3:201007

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 3435
Entrez Gene 2071
PubMed articles ERCC3
OMIM - Gene 133510
OMIM - Diseases TTD2 (Trichothiodystrophy 2, photosensitive)
XPB (Xeroderma pigmentosum, group B)


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000057 2 excision repair cross-complementing rodent repair deficiency, complementation group 3 NM_000122.1 NP_000113.1 215


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