Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.*214G
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VHL

NM_000551.4:p.*214G

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

Nonstop mutations cause loss of renal tumor suppressor proteins VHL and BAP1 and affect multiple stages of protein translation.

Pal J et al.

Science Advances, 2025

Genetic predisposition to pheochromocytoma and paraganglioma: 21 years of experience in the field.

Cardot-Bauters C et al.

Annales D'endocrinologie, 2024

Surveillance in Children and Adolescents with von Hippel-Lindau (VHL)-Related Pheochromocytomas and Paragangliomas: A Survey of MET and Freiburg-VHL Registries in Germany.

Kotsis F et al.

Journal of Kidney Cancer and Vhl, 2024

Retinal Glial Cells in Von Hippel-Lindau Disease: A Novel Approach in the Pathophysiology of Retinal Hemangioblastoma.

Pilotto E et al.

Cancers, 2021

Carbonic anhydrase 9 immunohistochemistry as a tool to predict or validate germline and somatic VHL mutations in pheochromocytoma and paraganglioma-a retrospective and prospective study.

Favier J et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy.

Neumann HPH et al.

Jama Network Open, 2019

31397861 (PubMed )
Supplement: jamanetwopen-2-e198898-s001.pdf

Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma.

Crona J et al.

Plos One, 2015

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