Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.H94D
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BAP1

NM_004656.4:p.H94D

Associated Papers

Meningioma with trabecular architecture: a harbinger of BAP1 deficiency.

Okuno N et al.

Brain Tumor Pathology, 2025

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_k_bottom

Clinical and molecular characteristics of Chinese non-small cell lung cancer patients with ERBB2 transmembrane domain mutations.

Fan Y et al.

Molecular Oncology, 2020

32478891 (PubMed )
Supplement: MOL2-14-1731-s002.xlsx › Sheet1

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

Repo P et al.

Human Molecular Genetics, 2019

A bidentate Polycomb Repressive-Deubiquitinase complex is required for efficient activity on nucleosomes.

Foglizzo M et al.

Nature Communications, 2018

30258054 (PubMed )
Supplement: 41467_2018_6186_MOESM1_ESM.pdf

POT1 loss-of-function variants predispose to familial melanoma.

Robles-Espinoza CD et al.

Nature Genetics, 2014

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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."