Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.H94R
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BAP1

NM_004656.4:p.H94R

Associated Papers

Whole-exome sequencing reveals genomic landscape of intrahepatic cholangiocarcinoma and identifies SAV1 as a potential driver.

Zhou ZJ et al.

Nature Communications, 2024

39551842 (PubMed )
Supplement: 41467_2024_54387_MOESM3_ESM.xlsx › Supplementary_Data_2

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_j

Functional assay for assessment of pathogenicity of BAP1 variants.

Repo PE et al.

Human Molecular Genetics, 2024

Clear cell mesotheliomas with inactivating VHL mutations and near-haploid genomic features.

Michal M et al.

Genes, Chromosomes & Cancer, 2023

Prognostic Values of G-Protein Mutations in Metastatic Uveal Melanoma.

Terai M et al.

Cancers, 2021

34830903 (PubMed )
Supplement: cancers-13-05749-s001.zip › cancers-1393069-supplementary.pdf

Characterization of genetically defined sporadic and hereditary type 1 papillary renal cell carcinoma cell lines.

Yang Y et al.

Genes, Chromosomes & Cancer, 2021

Population-based analysis of BAP1 germline variations in patients with uveal melanoma.

Repo P et al.

Human Molecular Genetics, 2019

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.

Walpole S et al.

Journal of the National Cancer Institute, 2018

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

Patrone S et al.

Genes, Chromosomes & Cancer, 2018

Systematic genomic and translational efficiency studies of uveal melanoma.

Johnson CP et al.

Plos One, 2017

28594900 (PubMed )
Supplement: pone.0178189.s003.xls › Sheet1
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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."