Fanconi anemia complementation group Q: genes and variants
Fanconi anemia complementation group Q is linked to 1 analyzed protein (ERCC4). 3 DNA variants are known to cause it; 352 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Fanconi anemia complementation group Q
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.
3 disease-causing and 352 uncertain variants in ERCC4 are linked to Fanconi anemia complementation group Q.
Known disease-causing variants in Fanconi anemia complementation group Q
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ERCC4 C236R | 236 | Leucine-zipper 1 | Disease-causing (★★) |
| ERCC4 R689S | 689 | ERCC4 | Disease-causing (★★) |
| ERCC4 L230P | 230 | Helicase-like | Disease-causing |
Diseases related to Fanconi anemia complementation group Q
- 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
- Xeroderma pigmentosum, group F, 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 Fanconi anemia complementation group Q?
In CATVariant, Fanconi anemia complementation group Q is linked to 1 analyzed protein: ERCC4 (DNA repair endonuclease XPF).
How many genetic variants are linked to Fanconi anemia complementation group Q?
379 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 352 are of uncertain significance or have conflicting reports.
Which uncertain variants in Fanconi anemia complementation group Q 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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