Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.I180N
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VHL

NM_000551.4:p.I180N

Associated Papers

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.

Buckley M et al.

Nature Genetics, 2024

Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.

Serghini A et al.

Human Molecular Genetics, 2024

37883464 (PubMed )
Supplement: supplementary_tables_marked_edit_ddad181.xlsx › Supplementary_Table_1

ATR represents a therapeutic vulnerability in clear cell renal cell carcinoma.

Seidel P et al.

Jci Insight, 2022

36413415 (PubMed )
Supplement: jciinsight-7-156087-s060.xlsx › 769P

Profiling of diverse tumor types establishes the broad utility of VHL-based ProTaCs and triages candidate ubiquitin ligases.

Luo X et al.

Iscience, 2022

35295813 (PubMed )
Supplement: mmc7.xlsx › Supplemental_Table_S7

Deubiquitylase OTUD6B stabilizes the mutated pVHL and suppresses cell migration in clear cell renal cell carcinoma.

Guo K et al.

Cell Death & Disease, 2022

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

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

VHL gene alterations in renal cell carcinoma patients: novel hotspot or founder mutations and linkage disequilibrium.

Ma X et al.

Oncogene, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."