ERCC3 Chromosome 2
ERCC excision repair 3, TFIIH core complex helicase subunit
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What This Gene Does
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]
Gene Info
Gene Group
"Xeroderma pigmentosum complementation groups|ERCC excision repair associated|General transcription factor IIH complex subunits|DexD/H helicases"
Locus Type
gene with protein product
Location
2q14.3
Ensembl
ENSG00000163161
Associated Conditions (11)
Xeroderma pigmentosum group B
Xeroderma pigmentosum
Trichothiodystrophy 2
photosensitive
Inborn genetic diseases
Ovarian cancer
ERCC3-related disorder
Thyroid cancer
nonmedullary
1
Hereditary cancer-predisposing syndrome
Key Variants
RS114508982
Conflicting classifications of pathogenicity
Xeroderma pigmentosum group B, Xeroderma pigmentosum, Xeroderma pigmentosum group B
Health Risk
RS114710997
Conflicting classifications of pathogenicity
Xeroderma pigmentosum group B, Xeroderma pigmentosum, Xeroderma pigmentosum group B
Health Risk
RS1194673433
Conflicting classifications of pathogenicity
Xeroderma pigmentosum group B, Xeroderma pigmentosum group B
Health Risk
RS1258857605
Conflicting classifications of pathogenicity
Xeroderma pigmentosum group B, Xeroderma pigmentosum, Xeroderma pigmentosum group B
Health Risk
RS1419254389
Conflicting classifications of pathogenicity
Xeroderma pigmentosum group B, Xeroderma pigmentosum group B
Health Risk
RS142333442
Conflicting classifications of pathogenicity
Health Risk
RS145201970
Conflicting classifications of pathogenicity
Xeroderma pigmentosum group B, Trichothiodystrophy 2, photosensitive
Health Risk
RS145830873
Conflicting classifications of pathogenicity
Xeroderma pigmentosum group B, Xeroderma pigmentosum group B
Health Risk
RS151216904
Conflicting classifications of pathogenicity
Xeroderma pigmentosum group B, Xeroderma pigmentosum, Trichothiodystrophy 2
Health Risk
RS1684835050
Conflicting classifications of pathogenicity
Ovarian cancer, Inborn genetic diseases, Ovarian cancer
Health Risk
RS200098409
Conflicting classifications of pathogenicity
Ovarian cancer, Ovarian cancer
Health Risk
RS200361738
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, Xeroderma pigmentosum
Health Risk
All Variants (78)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2104774793 | Health Risk | Pathogenic | — |
| RS2104776740 | Health Risk | Pathogenic | — |
| RS2104783010 | Health Risk | Pathogenic | — |
| RS2468040256 | Health Risk | Pathogenic | — |
| RS2468052782 | Health Risk | Pathogenic | — |
| RS2468056985 | Health Risk | Pathogenic | — |
| RS2468057422 | Health Risk | Pathogenic | — |
| RS2468067807 | Health Risk | Pathogenic | — |
| RS2468070622 | Health Risk | Pathogenic | — |
| RS2468070901 | Health Risk | Pathogenic | — |
| RS368191279 | Health Risk | Pathogenic | — |
| RS755764533 | Health Risk | Pathogenic | Xeroderma pigmentosum group B, Xeroderma pigmentosum group B |
| RS762462326 | Health Risk | Pathogenic | — |
| RS766657138 | Health Risk | Pathogenic | — |
| RS781006740 | Health Risk | Pathogenic | — |
| RS866379139 | Health Risk | Pathogenic | Xeroderma pigmentosum group B, Xeroderma pigmentosum group B |
| RS1055129064 | Health Risk | Pathogenic/Likely pathogenic | Xeroderma pigmentosum group B, Trichothiodystrophy 2, photosensitive |
| RS1302552127 | Health Risk | Pathogenic/Likely pathogenic | Trichothiodystrophy 2, photosensitive, Xeroderma pigmentosum group B |
| RS1434876636 | Health Risk | Pathogenic/Likely pathogenic | Xeroderma pigmentosum group B, Xeroderma pigmentosum, Trichothiodystrophy 2 |
| RS1466213230 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS150954655 | Health Risk | Pathogenic/Likely pathogenic | Xeroderma pigmentosum group B, Trichothiodystrophy 2, photosensitive |
| RS34295337 | Health Risk | Pathogenic/Likely pathogenic | Xeroderma pigmentosum group B, Xeroderma pigmentosum, Trichothiodystrophy 2 |
| RS587778281 | Health Risk | Pathogenic/Likely pathogenic | Xeroderma pigmentosum group B, Xeroderma pigmentosum, Trichothiodystrophy 2 |
| RS753182861 | Health Risk | Pathogenic/Likely pathogenic | Xeroderma pigmentosum, Xeroderma pigmentosum group B, Trichothiodystrophy 2 |
| RS763315862 | Health Risk | Pathogenic/Likely pathogenic | Xeroderma pigmentosum group B, Inborn genetic diseases, Trichothiodystrophy 2 |
| RS768687646 | Health Risk | Pathogenic/Likely pathogenic | Xeroderma pigmentosum group B, Trichothiodystrophy 2, photosensitive |
| RS774261851 | Health Risk | Pathogenic/Likely pathogenic | Xeroderma pigmentosum group B, Trichothiodystrophy 2, photosensitive |
| RS778865255 | Health Risk | Pathogenic/Likely pathogenic | Trichothiodystrophy 2, photosensitive, Xeroderma pigmentosum group B |