RAD50
Chr 5ARRAD50 double strand break repair protein
Also known as: NBSLD, RAD502, hRad50
The RAD50 protein is a component of the MRN complex that performs DNA double-strand break repair, DNA recombination, and telomere maintenance. Biallelic mutations cause Nijmegen breakage syndrome-like disorder with autosomal recessive inheritance. This gene is extremely intolerant to loss-of-function variants, indicating its essential role in cellular viability.
Refuted — evidence has disproved this relationship
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RAD50 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Phase 1/1B Study of ST-01156, a Small Molecule RBM39 Degrader, in Patients With Advanced Solid Malignancies
RECRUITINGPrevalence Of Germline Gene Mutations In Patients With Myeloproliferative Neoplasms With Family History
NOT YET RECRUITINGSerial Circulating Tumor DNA (ctDNA) Monitoring During Adjuvant Capecitabine in Early Triple-negative Breast Cancer
RECRUITINGA Study of Pembrolizumab and Olaparib for People With Metastatic Pancreatic Ductal Adenocarcinoma and Homologous Recombination Deficiency or Exceptional Treatment Response to Platinum-Based Therapy
ACTIVE NOT RECRUITINGStudy of SBRT/Olaparib Followed by Pembrolizumab/Olaparib in Gastric Cancers
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools