Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.F136V
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VHL

NM_000551.4:p.F136V

Associated Papers

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_

Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.

Serghini A et al.

Human Molecular Genetics, 2024

37883464 (PubMed )
Supplement: supplementary_tables_marked_edit_ddad181.xlsx › Supplementary_Table_1

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

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

Tumor Evolution in a Patient with Recurrent Endometrial Cancer and Synchronous Neuroendocrine Cancer and Response to Checkpoint Inhibitor Treatment.

Trikalinos NA et al.

The Oncologist, 2021

Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

Fields FR et al.

Plos One, 2020

33151962 (PubMed )
Supplement: pone.0234100.s006.xlsx › Missense_Mutations_Unweighted

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

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.s001.xlsx › AlignGVGD

Somatic mutations in renal cell carcinomas from Chinese patients revealed by whole exome sequencing.

Wang J et al.

Cancer Cell International, 2018

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

An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.

Gossage L et al.

Human Molecular Genetics, 2014

24969085 (PubMed )
Supplement: supp_ddu321_ddu321supp_table.xlsx › Supplementary_Table_2A

VHL genetic alteration in CCRCC does not determine de-regulation of HIF, CAIX, hnRNP A2/B1 and osteopontin.

Nyhan MJ et al.

Cellular Oncology (dordrecht, Netherlands), 2011

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

VHL genetic alteration in CCRCC does not determine de-regulation of HIF, CAIX, hnRNP A2/B1 and osteopontin.

Nyhan MJ et al.

Analytical Cellular Pathology (amsterdam), 2010

Germ-line mutations in nonsyndromic pheochromocytoma.

Neumann HP et al.

The New England Journal of Medicine, 2002

Recurrent polytopic chromaffin paragangliomas in a 9-year-old boy resulting from a novel germline mutation in the von Hippel-Lindau gene.

Reichardt P et al.

Journal of Pediatric Hematology/oncology, 2002

Pheochromocytoma and multifocal functioning paraganglioma in a 9-year-old boy with von Hippel-Lindau disease.

Tröbs RB et al.

Urologia Internationalis, 2002

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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."