Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.L97Q
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BAP1

NM_004656.4:p.L97Q

Associated Papers

Early genetic evolution of driver mutations in uveal melanoma.

Dollar JJ et al.

Nature Communications, 2025

41387680 (PubMed )
Supplement: 41467_2025_66428_MOESM6_ESM.xlsx › Figure_3a-f

Molecular profiling of driver events in metastatic uveal melanoma.

Karlsson J et al.

Nature Communications, 2020

32313009 (PubMed )
Supplement: 41467_2020_15606_MOESM4_ESM.xlsx › All_variants

Mutational Landscape of the BAP1 Locus Reveals an Intrinsic Control to Regulate the miRNA Network and the Binding of Protein Complexes in Uveal Melanoma.

Sharma A et al.

Cancers, 2019

31635116 (PubMed )
Supplement: cancers-11-01600-s001.pdf

AlphaMissense Predictions and ClinVar Annotations: A Deep Learning Approach to Uveal Melanoma.

Taylor Gonzalez DJ et al.

Ophthalmology Science, 0

40114711 (PubMed )
Supplement: mmc1.docx
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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."