Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.L97P
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BAP1

NM_004656.4:p.L97P

Associated Papers

Digital PCR-based genetic profiling from vitreous fluid as liquid biopsy for primary uveal melanoma: a proof-of-concept study.

Nell RJ et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2025

40240901 (PubMed )
Supplement: 13046_2025_3374_MOESM2_ESM.xlsx › Supplementary_Table_1

Functional characterisation guides classification of novel BAP1 germline variants.

Hong JH et al.

Npj Genomic Medicine, 2020

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

Patrone S et al.

Genes, Chromosomes & Cancer, 2018

Targeted next generation sequencing reveals unique mutation profile of primary melanocytic tumors of the central nervous system.

van de Nes J et al.

Journal of Neuro-oncology, 2016

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

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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