Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.C162S
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VHL

NM_000551.4:p.C162S

Associated Papers

S-nitrosylation of pVHL regulates β2 adrenergic receptor function.

Grimmett ZW et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Comprehensive functional evaluation of variants of fibroblast growth factor receptor genes in cancer.

Nakamura IT et al.

Npj Precision Oncology, 2021

34272467 (PubMed )
Supplement: 41698_2021_204_MOESM6_ESM.xlsx › Supplementary_Data_4

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_Weighted

Tumorigenic mutations in VHL disrupt folding in vivo by interfering with chaperonin binding.

Feldman DE et al.

Molecular Cell, 2003

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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."