Xeroderma pigmentosum group A: genes and variants
Xeroderma pigmentosum group A is linked to 1 analyzed protein (XPA). 4 DNA variants are known to cause it; 13 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 Xeroderma pigmentosum group A
XPA: DNA repair protein complementing XP-A cells
It verifies bulky DNA lesions and organizes the nucleotide-excision-repair machinery around damaged sites. Biallelic loss-of-function variants cause xeroderma pigmentosum group A with extreme ultraviolet sensitivity, early skin cancers, and often progressive neurologic disease.
4 disease-causing and 13 uncertain variants in XPA are linked to Xeroderma pigmentosum group A.
Weakly linked (only a few uncertain records): XPC.
Known disease-causing variants in Xeroderma pigmentosum group A
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| XPA C126W | 126 | Zinc finger | Disease-causing (★★) |
| XPA C108F | 108 | Zinc finger | Disease-causing (★★) |
| XPA G95R | 95 | Interaction with CEP164 and required for UV resi | Disease-causing (★★) |
| XPA M1T | 1 | Disease-causing (★) |
Diseases related to Xeroderma pigmentosum group A
- Xeroderma pigmentosum, also linked to XPA
- Basal cell carcinoma, also linked to XPA
Frequently asked questions
Which genes are linked to Xeroderma pigmentosum group A?
In CATVariant, Xeroderma pigmentosum group A is linked to 1 analyzed protein: XPA (DNA repair protein complementing XP-A cells).
How many genetic variants are linked to Xeroderma pigmentosum group A?
61 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 13 are of uncertain significance or have conflicting reports.
Which uncertain variants in Xeroderma pigmentosum group A 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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