Varaico: Literature-Extracted Genetic Variants

Gene:ARID1A
Variant:p.D2178fs
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ARID1A

NM_006015.6:p.D2178fs

Associated Papers

Molecular subtyping of endometrial carcinoma cell lines uncovers subtype-specific targetable vulnerabilities.

Li ES et al.

Npj Precision Oncology, 2025

40707668 (PubMed )
Supplement: 41698_2025_1053_MOESM2_ESM.xlsx › Suppl_Data_4

Endometrioid ovarian carcinoma landscape: pathological and molecular characterization.

de Nonneville A et al.

Molecular Oncology, 2024

38923749 (PubMed )
Supplement: MOL2-18-2586-s001.zip › mol213679-sup-0010-TableS7.xlsx › SupTable7

Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.

Meijer TG et al.

Cancers, 2024

38398132 (PubMed )
Supplement: cancers-16-00741-s001.zip › Table_S1-2_WES_results.xlsx › Table_S2

A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin-Siris Syndrome.

Lee CG et al.

Annals of Laboratory Medicine, 2021

Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders.

Sokpor G et al.

Frontiers in Molecular Neuroscience, 2017

Creating a neural specific chromatin landscape by npBAF and nBAF complexes.

Staahl BT et al.

Current Opinion in Neurobiology, 2013

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

Santen GW et al.

Human Mutation, 2013

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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."