Xeroderma pigmentosum, group C: genes and variants
Xeroderma pigmentosum, group C is linked to 1 analyzed protein (XPC). 1 DNA variants are known to cause it; 64 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 C
Genes linked to Xeroderma pigmentosum, group C
XPC: DNA repair protein complementing XP-C cells
It detects helix-distorting lesions throughout the genome and initiates global-genome nucleotide-excision repair. Biallelic loss-of-function variants cause xeroderma pigmentosum group C with severe ultraviolet sensitivity and greatly increased skin-cancer risk.
1 disease-causing and 64 uncertain variants in XPC are linked to Xeroderma pigmentosum, group C.
Known disease-causing variants in Xeroderma pigmentosum, group C
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| XPC Y585C | 585 | Interaction with RAD23B | Disease-causing (★★) |
Diseases related to Xeroderma pigmentosum, group C
- Ovarian cancer, also linked to XPC
- Xeroderma pigmentosum, also linked to XPC
Frequently asked questions
Which genes are linked to Xeroderma pigmentosum, group C?
In CATVariant, Xeroderma pigmentosum, group C is linked to 1 analyzed protein: XPC (DNA repair protein complementing XP-C cells).
How many genetic variants are linked to Xeroderma pigmentosum, group C?
112 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 64 are of uncertain significance or have conflicting reports.
Which uncertain variants in Xeroderma pigmentosum, group C 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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