Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V155E
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VHL

NM_000551.4:p.V155E

Associated Papers

Prediction tools for assessing functional impacts of gene mutations in Clear Cell Renal Cell Carcinoma: A comparative study.

Yang CH et al.

Computers in Biology and Medicine, 2025

VHL syndrome without clear family history: A rare case report and literature review of Chinese patients.

Li Y et al.

Frontiers in Neurology, 2022

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

A c.464T>a mutation in VHL gene in a Chinese family with VHL syndrome.

Lu Y et al.

Journal of Neuro-oncology, 2013

Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis.

Forman JR et al.

Proteins, 2009

Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours.

Srirangalingam U et al.

Endocrine-related Cancer, 2009

Synergistic growth inhibition by Iressa and Rapamycin is modulated by VHL mutations in renal cell carcinoma.

Gemmill RM et al.

British Journal of Cancer, 2005

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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."