Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.K61R
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BAP1

NM_004656.4:p.K61R

Associated Papers

UFMylation maintains tumor suppressor pVHL stability by activating the deubiquitinase BAP1.

Yang X et al.

Science Advances, 2025

Genetic landscape and prognosis of conjunctival melanoma in Chinese patients.

Shi H et al.

The British Journal of Ophthalmology, 2024

38383070 (PubMed )
Supplement: bjo-2023-324306supp002.pdf

Saturation genome editing of BAP1 functionally classifies somatic and germline variants.

Waters AJ et al.

Nature Genetics, 2024

38969833 (PubMed )
Supplement: 41588_2024_1799_MOESM19_ESM.xlsx › extended_data_fig_7_a

Molecular Genetics of Conjunctival Melanoma and Prognostic Value of TERT Promoter Mutation Analysis.

van Poppelen NM et al.

International Journal of Molecular Sciences, 2021

34071371 (PubMed )
Supplement: ijms-22-05784-s001.zip › ijms-1219237-supplementary.pdf

Towards Personalized Medicine in Melanoma: Implementation of a Clinical Next-Generation Sequencing Panel.

de Unamuno Bustos B et al.

Scientific Reports, 2017

28356599 (PubMed )
Supplement: 41598_2017_606_MOESM2_ESM.xls › Table_S1

Conjunctival melanomas harbor BRAF and NRAS mutations and copy number changes similar to cutaneous and mucosal melanomas.

Griewank KG et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013

Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials.

Lovly CM et al.

Plos One, 2012

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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."