Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.R508C
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BAP1

NM_004656.4:p.R508C

Associated Papers

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › B_Tissue_as_normal

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

Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.

Gargallo P et al.

Cancers, 2021

34771502 (PubMed )
Supplement: cancers-13-05339-s001.zip › cancers-1401869-supplementary.xlsx › supplementary_material3

A bidentate Polycomb Repressive-Deubiquitinase complex is required for efficient activity on nucleosomes.

Foglizzo M et al.

Nature Communications, 2018

30258054 (PubMed )
Supplement: 41467_2018_6186_MOESM1_ESM.pdf
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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."