Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.D197N
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VHL

NM_000551.4:p.D197N

Associated Papers

Genotype-specific neoplastic risk profiles in patients with VHL disease.

Ganner A et al.

Endocrine-related Cancer, 2025

40202835 (PubMed )
Supplement: supplementary_materials.pdf

Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.

Loughrey PB et al.

Endocrine-related Cancer, 2022

The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors.

Xekouki P et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2019

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

Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.

Xiu J et al.

Oncotarget, 2016

26933808 (PubMed )
Supplement: oncotarget-07-21556-s001.pdf

15 YEARS OF PARAGANGLIOMA: The association of pituitary adenomas and phaeochromocytomas or paragangliomas.

O'Toole SM et al.

Endocrine-related Cancer, 2015

A new germline VHL gene mutation in three patients with apparently sporadic pheochromocytoma.

D'Elia AV et al.

Clinical Endocrinology, 2013

VHL mutations in renal cell cancer: does occupational exposure to trichloroethylene make a difference?

Brauch H et al.

Toxicology Letters, 2004

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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."