Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.W117*
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VHL

NM_000551.4:p.W117*

Associated Papers

Utility of Next-Generation Sequencing in Renal Neoplasia, Including Tumors With Clear Cytoplasm and Rare Phenotypes (ELOC/MITF Alterations and Mismatch Repair Deficiency).

McCarthy M et al.

Mayo Clinic Proceedings, 2026

Investigating the association of VHL gene variants with disease risk and clinicopathological outcomes in ccRCC patients from West Bengal, India.

Chatterjee S et al.

Urologic Oncology, 2025

A nonsense mutation in VHL causing Von Hippel-Lindau syndrome in a large Chinese family-a genetic study of familial neoplastic disease.

Ding X et al.

The International Journal of Neuroscience, 2025

Metabolomic landscape of renal cell carcinoma in von Hippel-Lindau syndrome in a Chinese cohort.

Zhang Z et al.

Iscience, 2024

39055909 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.

Buckley M et al.

Nature Genetics, 2024

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_

Extensive intratumor regional epigenetic heterogeneity in clear cell renal cell carcinoma targets kidney enhancers and is associated with poor outcome.

El Khoury LY et al.

Clinical Epigenetics, 2023

37120552 (PubMed )
Supplement: 13148_2023_1471_MOESM1_ESM.xlsx › S3_Mutations_by_NGS

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

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

Differential VHL Mutation Patterns in Bilateral Clear Cell RCC Distinguishes Between Independent Primary Tumors and Contralateral Metastatic Disease.

Vocke CD et al.

Urology, 2022

Genomic profiles of Indonesian colorectal cancer patients.

Abdullah M et al.

F1000research, 2022

Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Cowan RW et al.

Clinical and Translational Gastroenterology, 2021

34797250 (PubMed )
Supplement: ct9-12-e00431-s005.xlsx › SDC5

Complementary Role of Circulating Tumor DNA Assessment and Tissue Genomic Profiling in Metastatic Renal Cell Carcinoma.

Zengin ZB et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021

34130999 (PubMed )
Supplement: 10780432ccr210572-sup-260633_2_supp_7138642_qtl5pw.xlsx › Supplementary_Table_1

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

Transcriptomic characterization and innovative molecular classification of clear cell renal cell carcinoma in the Chinese population.

Zhao Q et al.

Cancer Cell International, 2020

32982583 (PubMed )
Supplement: 12935_2020_1552_MOESM2_ESM.xlsx › Table_S1_a

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

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

Molecular Heterogeneity of Ewing Sarcoma as Detected by Ion Torrent Sequencing.

Zhang N et al.

Plos One, 2016

27077911 (PubMed )
Supplement: pone.0153546.s004.xlsx › Sheet1

[von Hippel-Lindau syndrome: a clinicopathologic analysis].

Wang S et al.

Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 2015

Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease.

Zhang J et al.

Chinese Medical Journal, 2015

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

Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma.

Taylor C et al.

International Journal of Oncology, 2012

Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.

Wu P et al.

Journal of Human Genetics, 2012

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

Dalgliesh GL et al.

Nature, 2010

20054297 (PubMed )
Supplement: NIHMS28099-supplement-7.xls › Renal4000Followup_context

Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families.

Zhang J et al.

Journal of Cancer Research and Clinical Oncology, 2008

Genotype-phenotype correlations in von Hippel-Lindau disease.

Neumann HP et al.

Journal of Internal Medicine, 1998

[Localization of point mutations in the coding part of the VHL gene in clear cell renal cancer].

Mikhaĭlenko DS et al.

Molekuliarnaia Biologiia, 0

Absence of BRAF mutation in pheochromocytoma and paraganglioma.

Vosecka T et al.

Neoplasma, 0

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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."