Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V165I
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VHL

NM_000551.4:p.V165I

Associated Papers

Delayed Cardiac Metastasis from Renal Cell Carcinoma Caused by VHL Mutation.

Sudduth CL et al.

Journal of Kidney Cancer and Vhl, 2023

Mutation Profile of Thymic Carcinoma and Thymic Neuroendocrine Tumor by Targeted Next-generation Sequencing.

Sakane T et al.

Clinical Lung Cancer, 2021

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

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
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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."