Parathyroid carcinoma: genes and variants
Parathyroid carcinoma is linked to 1 analyzed protein (CDC73). 4 DNA variants are known to cause it; 427 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 Parathyroid carcinoma
CDC73: Parafibromin
Within the PAF1 transcriptional complex, it helps regulate transcription, chromatin regulation, and cell proliferation. Germline loss-of-function variants cause hyperparathyroidism-jaw tumor syndrome and increase the risk of parathyroid carcinoma.
4 disease-causing and 427 uncertain variants in CDC73 are linked to Parathyroid carcinoma.
Known disease-causing variants in Parathyroid carcinoma
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CDC73 M1V | 1 | Disease-causing (★) | |
| CDC73 M1I | 1 | Disease-causing (★) | |
| CDC73 L63P | 63 | Disease-causing (★) | |
| CDC73 L64P | 64 | Disease-causing (★) |
Frequently asked questions
Which genes are linked to Parathyroid carcinoma?
In CATVariant, Parathyroid carcinoma is linked to 1 analyzed protein: CDC73 (Parafibromin).
How many genetic variants are linked to Parathyroid carcinoma?
431 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 427 are of uncertain significance or have conflicting reports.
Which uncertain variants in Parathyroid carcinoma 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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