Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.Y23C
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VHL

NM_000551.4:p.Y23C

Associated Papers

Single-nuclei and bulk-tissue gene-expression analysis of pheochromocytoma and paraganglioma links disease subtypes with tumor microenvironment.

Zethoven M et al.

Nature Communications, 2022

36271074 (PubMed )
Supplement: 41467_2022_34011_MOESM6_ESM.xlsx › Supplementary_Data_3

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

Multiple Components of the VHL Tumor Suppressor Complex Are Frequently Affected by DNA Copy Number Loss in Pheochromocytoma.

Rowbotham DA et al.

International Journal of Endocrinology, 2014

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