Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.F136fs
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VHL

NM_000551.4:p.F136fs

Associated Papers

CDKN2A homozygous deletions and TSC2 somatic mutations in metastatic pancreatic neuroendocrine tumors.

Jesus TT et al.

Npj Precision Oncology, 2025

41350422 (PubMed )
Supplement: 41698_2025_1210_MOESM1_ESM.pdf

Genotype-specific neoplastic risk profiles in patients with VHL disease.

Ganner A et al.

Endocrine-related Cancer, 2025

40202835 (PubMed )
Supplement: supplementary_materials.pdf

Exploring the anticancer potential of hydrogen sulfide and BAY‑876 on clear cell renal cell carcinoma cells: Uncovering novel mutations in VHL and KDR genes among ccRCC patients.

Hamadamin PS et al.

Molecular and Clinical Oncology, 2024

38332991 (PubMed )
Supplement: Supplementary_Data4.xlsx › Gene_mutationsMon_Jul_10_22_36_

A case of ovarian mesothelioma with VHL mutation diagnosed by immunohistochemistry and literature review.

Yao Y et al.

Frontiers in Oncology, 2024

Genotype-phenotype correlation in von Hippel-Lindau disease.

Reich M et al.

Acta Ophthalmologica, 2021

Detection of von Hippel-Lindau gene mutation in circulating cell-free DNA for clear cell renal cell carcinoma.

Sumiyoshi T et al.

Cancer Science, 2021

34009695 (PubMed )
Supplement: CAS-112-3363-s003.xlsx › Table_S3

Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Bakouny Z et al.

Nature Communications, 2021

33547292 (PubMed )
Supplement: 41467_2021_21068_MOESM4_ESM.xlsx › oncop_maf

Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing.

Smith PS et al.

Genes, Chromosomes & Cancer, 2020

Primary peritoneal epithelioid mesothelioma of clear cell type with a novel VHL gene mutation: a case report.

Smith-Hannah A et al.

Human Pathology, 2019

Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors.

Krauss T et al.

Endocrine-related Cancer, 2018

Tuberous sclerosis complex protein 1 expression is affected by VHL Gene alterations and HIF-1α production in sporadic clear-cell renal cell carcinoma.

Damjanovic SS et al.

Experimental and Molecular Pathology, 2016

Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas.

Taïeb D et al.

Journal of Neuro-oncology, 2016

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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."