Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.Q164*
Back to variants list

VHL

NM_000551.4:p.Q164*

Associated Papers

Prognostic significance of circulating tumor DNA alterations in advanced renal cell carcinoma from SCRUM-Japan MONSTAR-SCREEN: a nationwide genomic profiling project.

Kato T et al.

British Journal of Cancer, 2025

40325148 (PubMed )
Supplement: 41416_2025_2985_MOESM2_ESM.xlsx › Supplementary_Table_S2

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

Ganner A et al.

Endocrine-related Cancer, 2025

40202835 (PubMed )
Supplement: supplementary_materials.pdf

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

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

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_Data3.xlsx › Mutagene

Altered cytoplasmic and nuclear ADP-ribosylation levels analyzed with an improved ADP-ribose binder are a prognostic factor in renal cell carcinoma.

Schraml P et al.

The Journal of Pathology. Clinical Research, 2023

36999983 (PubMed )
Supplement: CJP2-9-273-s001.xlsx › Tumor_23

Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan.

Tamura K et al.

Human Molecular Genetics, 2023

36905328 (PubMed )
Supplement: suple_tables_vhl_v6_0_ddad039.xlsx › Supple_Table2

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

Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype-phenotype correlation and gene therapy perspective.

Tong D et al.

Cancer Cell International, 2021

Genotype-phenotype correlation in von Hippel-Lindau disease.

Reich M et al.

Acta Ophthalmologica, 2021

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

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

Krauss T et al.

Endocrine-related Cancer, 2018

Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Kovaleva V et al.

Molecular Cancer, 2016

27756406 (PubMed )
Supplement: 12943_2016_549_MOESM2_ESM.xlsx › Kovaleva_SuppTableS4_BMC_MolCan

Difference in CXCR4 expression between sporadic and VHL-related hemangioblastoma.

Kruizinga RC et al.

Familial Cancer, 2016

Mutational analysis of pulmonary tumours with neuroendocrine features using targeted massive parallel sequencing: a comparison of a neglected tumour group.

Vollbrecht C et al.

British Journal of Cancer, 2015

Targeting HIF2α translation with Tempol in VHL-deficient clear cell renal cell carcinoma.

Sourbier C et al.

Oncotarget, 2012

Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.

Hes FJ et al.

Clinical Genetics, 2007

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."