rs4150515
This variant is located in the ERCC3 gene.
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout ERCC3
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]
View all ERCC3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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