Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.C162*
Back to variants list

VHL

NM_000551.4:p.C162*

Associated Papers

Evaluation of nuclear pseudoinclusions, GATA3, 34βE12, and GPNMB performances in CK7 diffuse positive clear cell renal cell neoplasms.

Chen M et al.

Human Pathology, 2025

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

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_Table1

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

Detection of von Hippel-Lindau gene mutation in circulating cell-free DNA for clear cell renal cell carcinoma.

Sumiyoshi T et al.

Cancer Science, 2021

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

New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations.

Fagundes GFC et al.

Journal of the Endocrine Society, 2019

Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: findings, results, and indications.

Kim HJ et al.

The Laryngoscope, 2013

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."