Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L153P
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VHL

NM_000551.4:p.L153P

Associated Papers

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

Buckley M et al.

Nature Genetics, 2024

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_

Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.

Serghini A et al.

Human Molecular Genetics, 2024

37883464 (PubMed )
Supplement: supplementary_tables_marked_edit_ddad181.xlsx › Supplementary_Table_1

Computational analysis of protein-protein interactions of cancer drivers in renal cell carcinoma.

Pei J et al.

Febs Open Bio, 2024

37964489 (PubMed )
Supplement: FEB4-14-112-s002.xlsx › AlphaFold_models

Potential Role of VHL, PTEN, and BAP1 Mutations in Renal Tumors.

Szegedi K et al.

Journal of Clinical Medicine, 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

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

Vocke CD et al.

Urology, 2022

Safety and activity of vandetanib in combination with everolimus in patients with advanced solid tumors: a phase I study.

Cascone T et al.

Esmo Open, 2021

33721621 (PubMed )
Supplement: mmc1.docx

Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

Fields FR et al.

Plos One, 2020

33151962 (PubMed )
Supplement: pone.0234100.s006.xlsx › Missense_Mutations_Unweighted

Genotype-phenotype relations of the von Hippel-Lindau tumor suppressor inferred from a large-scale analysis of disease mutations and interactors.

Minervini G et al.

Plos Computational Biology, 2019

30943211 (PubMed )
Supplement: pcbi.1006478.s001.xlsx › AlignGVGD

Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Dehghani M et al.

Frontiers in Molecular Biosciences, 2019

31681791 (PubMed )
Supplement: Data_Sheet_14.XLSX › SNV_and_indels

Correlation of genomic alterations assessed by next-generation sequencing (NGS) of tumor tissue DNA and circulating tumor DNA (ctDNA) in metastatic renal cell carcinoma (mRCC): potential clinical implications.

Hahn AW et al.

Oncotarget, 2017

Targeted molecular profiling of rare genetic alterations in colorectal cancer using next-generation sequencing.

Jauhri M et al.

Medical Oncology (northwood, London, England), 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

Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).

Ricketts CJ et al.

Plos One, 2015

26484545 (PubMed )
Supplement: pone.0140257.s003.xlsx › Sheet1

An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.

Gossage L et al.

Human Molecular Genetics, 2014

Multilayer-omics analysis of renal cell carcinoma, including the whole exome, methylome and transcriptome.

Arai E et al.

International Journal of Cancer, 2014

24504440 (PubMed )
Supplement: ijc0135-1330-sd8.pdf

Mutational landscape and significance across 12 major cancer types.

Kandoth C et al.

Nature, 2013

24132290 (PubMed )
Supplement: 41586_2013_BFnature12634_MOESM82_ESM.zip › nature12634-s1 › Supplementary_Table_5.xlsx › S_Table_5

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

Sourbier C et al.

Oncotarget, 2012

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

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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."