Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.R182G
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VHL

NM_000551.4:p.R182G

Associated Papers

Computational analysis of protein-protein interactions of cancer drivers in renal cell carcinoma.

Pei J et al.

Febs Open Bio, 2024

37964489 (PubMed )
Supplement: FEB4-14-112-s002.xlsx › AlphaFold_models

Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

Fields FR et al.

Plos One, 2020

33151962 (PubMed )
Supplement: pone.0234100.s007.xlsx › Unweighted_ClinVar_Muts

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

Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.

Oliveira JL et al.

American Journal of Hematology, 2018

Hereditary renal cell carcinoma associated with von Hippel-Lindau disease: a description of a Nova Scotia cohort.

Bradley S et al.

Canadian Urological Association Journal = Journal De L'association Des Urologues Du Canada, 2009

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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."