Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.R213P
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BAP1

NM_004656.4:p.R213P

Associated Papers

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_b

Histologically Diverse BAP1-Deficient Melanocytic Tumors in a Patient With BAP1 Tumor Predisposition Syndrome.

Louw A et al.

The American Journal of Dermatopathology, 2020

Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes.

Suszynska M et al.

Gynecologic Oncology, 2019

Prognostic value of chromosomal imbalances, gene mutations, and BAP1 expression in uveal melanoma.

Patrone S et al.

Genes, Chromosomes & Cancer, 2018

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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."