Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.V171fs
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BAP1

NM_004656.4:p.V171fs

Associated Papers

Prospective Analysis of Mesotheliomas in Subjects With BAP1 Cancer Syndrome: Clinical Characteristics and Epigenetic Correlates of Disease.

Wu X et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2025

40774608 (PubMed )
Supplement: NIHMS2108845-supplement-MMC19.pdf

Oncologist-led germline genetic testing for uveal melanoma.

Gillies B et al.

Ophthalmic Genetics, 2023

Family Matters: Germline Testing in Thoracic Cancers.

Hathaway F et al.

American Society of Clinical Oncology Educational Book. American Society of Clinical Oncology. Annual Meeting, 2023

Molecular analysis of adenocarcinomas of the rete testis demonstrates frequent alterations in genes involved in cell cycle regulation.

Acosta AM et al.

Histopathology, 2022

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

Characterization of tumor mutation burden, PD-L1 and DNA repair genes to assess relationship to immune checkpoint inhibitors response in metastatic renal cell carcinoma.

Labriola MK et al.

Journal for Immunotherapy of Cancer, 2020

32221016 (PubMed )
Supplement: jitc-2019-000319supp001.xlsx › Supp_Table_1

Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature.

Haugh AM et al.

Jama Dermatology, 2017

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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."