Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.W117G
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VHL

NM_000551.4:p.W117G

Associated Papers

Metabolomic landscape of renal cell carcinoma in von Hippel-Lindau syndrome in a Chinese cohort.

Zhang Z et al.

Iscience, 2024

39055909 (PubMed )
Supplement: mmc3.xlsx › Sheet1

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_

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 › PDB

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

The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.

Hudler P et al.

Genes, 2022

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

34009695 (PubMed )
Supplement: CAS-112-3363-s003.xlsx › Table_S3

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

Fields FR et al.

Plos One, 2020

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

Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel-Lindau Disease.

Hong B et al.

Frontiers in Genetics, 2019

The Efficacy and Safety of Tyrosine Kinase Inhibitors for Von Hippel-Lindau Disease: A Retrospective Study of 32 Patients.

Ma K et al.

Frontiers in Oncology, 2019

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

24969085 (PubMed )
Supplement: supp_ddu321_ddu321supp_table.xlsx › Supplementary_Table_2A

Higher prevalence of novel mutations in VHL gene in Chinese Von Hippel-Lindau disease patients.

Wang X et al.

Urology, 2014

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.

Dalgliesh GL et al.

Nature, 2010

20054297 (PubMed )
Supplement: NIHMS28099-supplement-7.xls › Renal4000Followup_context
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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."