Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E70*
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VHL

NM_000551.4:p.E70*

Associated Papers

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

Ganner A et al.

Endocrine-related Cancer, 2025

40202835 (PubMed )
Supplement: supplementary_materials.pdf

Novel OCT Angiography Features, von Hippel-Lindau Disease Association, and Genetic Characterization of Juxtapapillary Retinal Capillary Hemangiomas.

Zhuang X et al.

Investigative Ophthalmology & Visual Science, 2025

Fibroblast growth factor receptor expression in hemangioblastomas: A novel therapeutic target.

Puttonen M et al.

Plos One, 2025

40393028 (PubMed )
Supplement: pone.0323979.s002.pdf

Pancreatic Hemangioblastoma in a Patient with von Hippel-Lindau Disease: A Case Report.

Nakamura N et al.

Surgical Case Reports, 2025

Screening and surveillance recommendations for central nervous system hemangioblastomas in pediatric patients with Von Hippel-Lindau disease.

Knoblauch AL et al.

Journal of Neuro-oncology, 2024

38647646 (PubMed )
Supplement: 11060_2024_4676_MOESM1_ESM.pdf

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

Buckley M et al.

Nature Genetics, 2024

38969834 (PubMed )
Supplement: 41588_2024_1800_MOESM4_ESM.xlsx › ST1

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_

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

Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients.

Zhang K et al.

Journal of Medical Genetics, 2022

34916234 (PubMed )
Supplement: jmedgenet-2021-108216supp006.pdf

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

Risk prediction for metastasis of clear cell renal cell carcinoma using digital multiplex ligation-dependent probe amplification.

Yoshikawa Y et al.

Cancer Science, 2022

34687579 (PubMed )
Supplement: CAS-113-297-s001.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

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

Papillary pattern in clear cell renal cell carcinoma: Clinicopathologic, morphologic, immunohistochemical and molecular genetic analysis of 23 cases.

Alaghehbandan R et al.

Annals of Diagnostic Pathology, 2019

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

Krauss T et al.

Endocrine-related Cancer, 2018

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

Wang J et al.

Cancer Cell International, 2018

Genomic profiling of the genes on chromosome 3p in sporadic clear cell renal cell carcinoma.

Togo Y et al.

International Journal of Oncology, 2016

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

Zhang J et al.

Chinese Medical Journal, 2015

Mutational status of VHL gene and its clinical importance in renal clear cell carcinoma.

Alves MR et al.

Virchows Archiv : an International Journal of Pathology, 2014

Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.

Hwang S et al.

Journal of Human Genetics, 2014

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 comparison of sporadic and syndromic pancreatic islet cell tumors.

Erlic Z et al.

Endocrine-related Cancer, 2010

Absence of VHL gene alteration and high VEGF expression are associated with tumour aggressiveness and poor survival of renal-cell carcinoma.

Patard JJ et al.

British Journal of Cancer, 2009

19755989 (PubMed )
Supplement: 6605298x1.xls › DATA_VHL_

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

DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations.

Klein B et al.

Human Genetics, 2001

Genotype-phenotype correlations in von Hippel-Lindau disease.

Neumann HP et al.

Journal of Internal Medicine, 1998

Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.

Stolle C et al.

Human Mutation, 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."