Associated Papers
Nonstop mutations cause loss of renal tumor suppressor proteins VHL and BAP1 and affect multiple stages of protein translation.
Pal J et al.
Science Advances, 2025
39937911 (PubMed )
Supplement: sciadv.adr6375_tables_s1_to_s3.zip › adr6375_tables_s1_to_s3.xlsx › S1_-_Nonstop_Mutations
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › VHL
Genotype-phenotype relations of the von Hippel-Lindau tumor suppressor inferred from a large-scale analysis of disease mutations and interactors.
Minervini G et al.
Plos Computational Biology, 2019
30943211 (PubMed )
Supplement: pcbi.1006478.s006.xlsx › renal_phenotypes
Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance.
Razafinjatovo C et al.
Bmc Cancer, 2016
27530247 (PubMed )
Supplement: 12885_2016_2688_MOESM3_ESM.xlsx › Sheet1
Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma.
Sorrell AD et al.
Clinical Genetics, 2011
Select a paper to view details