Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V155Splc
Back to variants list

VHL

NM_000551.4:p.V155Splc

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

Preliminary Study of Whole-Genome Bisulfite Sequencing and Transcriptome Sequencing in VHL Disease-Associated ccRCC.

Li L et al.

Molecular Diagnosis & Therapy, 2023

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

Identification of Survival-Specific Genes in Clear Cell Renal Cell Carcinoma Using a Customized Next-Generation Sequencing Gene Panel.

Hwang J et al.

Journal of Personalized Medicine, 2022

Targeted Quantification of Carbon Metabolites Identifies Metabolic Progression Markers and an Undiagnosed Case of SDH-Deficient Clear Cell Renal Cell Carcinoma in a German Cohort.

William D et al.

Metabolites, 2021

34822422 (PubMed )
Supplement: metabolites-11-00764-s001.zip › Table_S1.zip › Table_S1.xlsx › Tabelle1

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

Fagundes GFC et al.

Journal of the Endocrine Society, 2019

VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease.

Mathó C et al.

Genetic Testing and Molecular Biomarkers, 2016

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

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

Pancreatic endocrine microadenomatosis in patients with von Hippel-Lindau disease: characterization by VHL/HIF pathway proteins expression.

Périgny M et al.

The American Journal of Surgical Pathology, 2009

High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil.

Rocha JC et al.

Journal of Medical Genetics, 2003

Germline mutations in the von Hippel-Lindau gene in Italian patients.

Ciotti P et al.

European Journal of Medical Genetics, 0

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."