Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E12D
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VHL

NM_000551.4:p.E12D

Associated Papers

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

VHLdb: A database of von Hippel-Lindau protein interactors and mutations.

Tabaro F et al.

Scientific Reports, 2016

Novel mutations and role of the LKB1 gene as a tumor suppressor in renal cell carcinoma.

Yalniz Z et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2014

Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population.

Leonardi E et al.

Annals of Human Genetics, 2011

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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."