Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L118V
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VHL

NM_000551.4:p.L118V

Associated Papers

Clinicopathological and molecular characterization of seven rare cases of renal cell carcinoma with hemangioblastoma-like features: Expanding the morphological spectrum of renal tumours with tuberous sclerosis complex/mammalian target of rapamycin mutations.

Tao X et al.

Histopathology, 2026

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

Ganner A et al.

Endocrine-related Cancer, 2025

40202835 (PubMed )
Supplement: supplementary_materials.pdf

von Hippel-Lindau syndrome-related congenital polycythemia and response to belzutifan.

Siqueira Do Amaral P et al.

Haematologica, 2024

pVHL-mediated regulation of the anti-angiogenic protein thrombospondin-1 decreases migration of Clear Cell Renal Carcinoma Cell Lines.

Sevilla-Montero J et al.

Scientific Reports, 2020

31980715 (PubMed )
Supplement: 41598_2020_58137_MOESM1_ESM.pdf

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_Unweighted
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