Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L201P
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VHL

NM_000551.4:p.L201P

Associated Papers

Novel and recurrent genetic variants of VHL, SDHB, and RET genes in Chinese pheochromocytoma and paraganglioma patients.

Li C et al.

Frontiers in Genetics, 2023

A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Chen S et al.

Genome Research, 2022

34963661 (PubMed )
Supplement: supp_gr.275437.121_Supplementary_Table_1.xlsx › Non-recurrent_variants

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

Mutated Von Hippel-Lindau-renal cell carcinoma (RCC) promotes patients specific natural killer (NK) cytotoxicity.

Trotta AM et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2018

An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.

Gossage L et al.

Human Molecular Genetics, 2014

24969085 (PubMed )
Supplement: supp_ddu321_ddu321supp_table.xlsx › Supplementary_Table_2A

Absence of BRAF mutation in pheochromocytoma and paraganglioma.

Vosecka T et al.

Neoplasma, 0

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