ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit
Gene ID: 2071, updated on 3-Nov-2024Gene type: protein coding
Also known as: XPB; BTF2; Ssl2; TTD2; GTF2H; RAD25; TFIIH
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- Go to complete Gene record for ERCC3
- Go to Variation Viewer for ERCC3 variants
Summary
This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Associated conditions
Genomic context
- Location:
- 2q14.3
- Sequence:
- Chromosome: 2; NC_000002.12 (127257290..127294144, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ERCC3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Catalogue of Somatic Mutations in Cancer (COSMIC)
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- ERCC3 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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