Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E186*
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VHL

NM_000551.4:p.E186*

Associated Papers

Prevalence of Germline Pathogenic Variants in Renal Cancer Predisposition Genes in a Population-Based Study of Renal Cell Carcinoma.

Bruinsma F et al.

Cancers, 2024

Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.

Vasudev NS et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36815791 (PubMed )
Supplement: ccr-22-1936_supplementary_table_s2_suppts2.xlsx › Sheet1

Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.

Chiorean A et al.

Human Mutation, 2022

35475554 (PubMed )
Supplement: HUMU-43-1268-s002.xlsx › Data_1

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

Ancestry-specific predisposing germline variants in cancer.

Oak N et al.

Genome Medicine, 2020

Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).

Ricketts CJ et al.

Plos One, 2015

26484545 (PubMed )
Supplement: pone.0140257.s003.xlsx › Sheet1

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.

Dalgliesh GL et al.

Nature, 2010

20054297 (PubMed )
Supplement: NIHMS28099-supplement-4.xls › Sheet1

Genotype-phenotype correlations in von Hippel-Lindau disease.

Neumann HP et al.

Journal of Internal Medicine, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."