Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.H115L
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VHL

NM_000551.4:p.H115L

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

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

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

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

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

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
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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."