Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L135*
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VHL

NM_000551.4:p.L135*

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

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

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

Vocke CD et al.

Urology, 2022

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

Molecular characterisation of sporadic endolymphatic sac tumours and comparison to von Hippel-Lindau disease-related tumours.

Schweizer L et al.

Neuropathology and Applied Neurobiology, 2021

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

Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy.

Neumann HPH et al.

Jama Network Open, 2019

31397861 (PubMed )
Supplement: jamanetwopen-2-e198898-s001.pdf

Mechanisms of acquired resistance to rapalogs in metastatic renal cell carcinoma.

Hamieh L et al.

Plos Genetics, 2018

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

Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.

Bausch B et al.

Head & Neck, 2016

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

Taïeb D et al.

Journal of Neuro-oncology, 2016

VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations.

Rechsteiner MP et al.

Cancer Research, 2011

21715564 (PubMed )
Supplement: 00085472can110757-sup-can_11-0757_rechsteiner_t2.pdf

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

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_

Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.

Boedeker CC et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

Neumann HP et al.

Cancer Research, 2009

Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations.

Ruiz-Llorente S et al.

Human Mutation, 2004

Genotype-phenotype correlations in von Hippel-Lindau disease.

Neumann HP et al.

Journal of Internal Medicine, 1998

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