Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.K453delFs
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BAP1

NM_004656.4:p.K453delFs

Associated Papers

Prospective Analysis of Mesotheliomas in Subjects With BAP1 Cancer Syndrome: Clinical Characteristics and Epigenetic Correlates of Disease.

Wu X et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2025

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf

BRCA1-associated-protein-1 inactivated melanocytic tumours: characterisation of the clinicopathological spectrum and immunohistochemical expression pattern of preferentially expressed antigen in melanoma.

Xu Y et al.

Histopathology, 2025

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

Waters AJ et al.

Nature Genetics, 2024

38969833 (PubMed )
Supplement: 41588_2024_1799_MOESM7_ESM.xlsx › Supplementary_Table_4

Integrative genomic analysis reveals cancer-associated mutations in patients with ophthalmic tumors.

Zhu F et al.

The Journal of International Medical Research, 2024

Correlation between BAP1 Localization, Driver Mutations, and Patient Survival in Uveal Melanoma.

Cole YC et al.

Cancers, 2022

36077643 (PubMed )
Supplement: cancers-14-04105-s001.zip › cancers-1858458-supplementary.pdf

Functional characterisation guides classification of novel BAP1 germline variants.

Hong JH et al.

Npj Genomic Medicine, 2020

Computational analysis of the mutations in BAP1, PBRM1 and SETD2 genes reveals the impaired molecular processes in renal cell carcinoma.

Piva F et al.

Oncotarget, 2015

26452128 (PubMed )
Supplement: oncotarget-06-32161-s002.xls › Predictions
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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."