K34Q (p.Lys34Gln) variant of CDC73 (Parafibromin)
K34Q (p.Lys34Gln) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Parathyroid carcinoma. The record also includes published literature and structural context.
K34Q (p.Lys34Gln) variant details
- p.Lys34Gln
- rs2527281430
- ClinGen CA343972947
- ClinVar RCV003020775
- UniProt VAR 064929
- Uncertain significance
- Parathyroid carcinoma
- Missense
- ClinVar: Uncertain significance (Parathyroid carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Sporadic human renal tumors display frequent allelic imbalances and novel mutations of the HRPT2 gene. (PMID 17130827)
- Cited in: CDC73-Related Disorders. (PMID 20301744)