Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.Q164L
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VHL

NM_000551.4:p.Q164L

Associated Papers

Belzutifan for patients with Von Hippel-Lindau (VHL) disease-associated heterogeneous tumors - a retrospective single center analysis.

Rhein K et al.

Bmc Cancer, 2025

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

Ganner A et al.

Endocrine-related Cancer, 2025

40202835 (PubMed )
Supplement: supplementary_materials.pdf

Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.

Chiorean A et al.

Human Mutation, 2022

35475554 (PubMed )
Supplement: HUMU-43-1268-s002.xlsx › Data_1

Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype-phenotype correlation and gene therapy perspective.

Tong D et al.

Cancer Cell International, 2021

Genotype-phenotype correlation in von Hippel-Lindau disease.

Reich M et al.

Acta Ophthalmologica, 2021

Molecular characterisation of sporadic endolymphatic sac tumours and comparison to von Hippel-Lindau disease-related tumours.

Schweizer L et al.

Neuropathology and Applied Neurobiology, 2021

Transcriptomic characterization and innovative molecular classification of clear cell renal cell carcinoma in the Chinese population.

Zhao Q et al.

Cancer Cell International, 2020

32982583 (PubMed )
Supplement: 12935_2020_1552_MOESM2_ESM.xlsx › Table_S1_a

Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.

Bausch B et al.

Head & Neck, 2016

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.

Dalgliesh GL et al.

Nature, 2010

20054297 (PubMed )
Supplement: NIHMS28099-supplement-7.xls › Renal4000Followup_context
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