Xeroderma pigmentosum, group F: genes and variants
Xeroderma pigmentosum, group F is linked to 1 analyzed protein (ERCC4). 2 DNA variants are known to cause it; 373 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: xeroderma pigmentosum group F
Genes linked to Xeroderma pigmentosum, group F
ERCC4: DNA repair endonuclease XPF
Together with ERCC1, it makes structure-specific DNA incisions required for nucleotide-excision repair and interstrand-crosslink repair. Biallelic pathogenic variants can cause xeroderma pigmentosum, Fanconi anemia, or severe progeroid DNA-repair disease.
2 disease-causing and 373 uncertain variants in ERCC4 are linked to Xeroderma pigmentosum, group F.
Known disease-causing variants in Xeroderma pigmentosum, group F
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ERCC4 C236R | 236 | Leucine-zipper 1 | Disease-causing (★★) |
| ERCC4 R689S | 689 | ERCC4 | Disease-causing (★★) |
Diseases related to Xeroderma pigmentosum, group F
- Ovarian cancer, also linked to ERCC4
- Acute myeloid leukemia, also linked to ERCC4
- Fanconi anemia, also linked to ERCC4
- Xeroderma pigmentosum, also linked to ERCC4
- Fanconi anemia complementation group Q, also linked to ERCC4
- Cockayne syndrome, also linked to ERCC4
- XFE progeroid syndrome, also linked to ERCC4
Frequently asked questions
Which genes are linked to Xeroderma pigmentosum, group F?
In CATVariant, Xeroderma pigmentosum, group F is linked to 1 analyzed protein: ERCC4 (DNA repair endonuclease XPF).
How many genetic variants are linked to Xeroderma pigmentosum, group F?
401 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 373 are of uncertain significance or have conflicting reports.
Which uncertain variants in Xeroderma pigmentosum, group F look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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