Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.D672G
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BAP1

NM_004656.4:p.D672G

Associated Papers

Genomics driven precision oncology in advanced biliary tract cancer improves survival.

Kumar-Sinha C et al.

Neoplasia (new York, N.y.), 2023

Intrinsic Disorder in BAP1 and Its Association with Uveal Melanoma.

Djulbegovic MB et al.

Genes, 2022

36292588 (PubMed )
Supplement: genes-13-01703-s001.zip › genes-1889968-supplementary.pdf

Targeting G1/S phase cell-cycle genomic alterations and accompanying co-alterations with individualized CDK4/6 inhibitor-based regimens.

Kato S et al.

Jci Insight, 2021

33427211 (PubMed )
Supplement: jciinsight-6-142547-s159.pdf

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

Multi-Modality Analysis Improves Survival Prediction in Enucleated Uveal Melanoma Patients.

Drabarek W et al.

Investigative Ophthalmology & Visual Science, 2019

31425584 (PubMed )
Supplement: iovs-60-08-34_s03.xlsx › Sheet1

Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma.

Ewens KG et al.

Bmc Cancer, 2018

Familial and Somatic BAP1 Mutations Inactivate ASXL1/2-Mediated Allosteric Regulation of BAP1 Deubiquitinase by Targeting Multiple Independent Domains.

Peng H et al.

Cancer Research, 2018

BAP1 Is Altered by Copy Number Loss, Mutation, and/or Loss of Protein Expression in More Than 70% of Malignant Peritoneal Mesotheliomas.

Leblay N et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2017

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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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."