Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V165G
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VHL

NM_000551.4:p.V165G

Associated Papers

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

Sudduth CL et al.

Journal of Kidney Cancer and Vhl, 2023

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

Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene.

Bradley JF et al.

American Journal of Medical Genetics, 1999

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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."