Varaico: Literature-Extracted Genetic Variants

Gene:ARID1A
Variant:p.S11_P19delFs
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ARID1A

NM_006015.6:p.S11_P19delFs

Associated Papers

Phylogenetic analysis of paired breast carcinomas identifies genetic events associated with clonal recurrence and invasive progression.

Kader T et al.

The Journal of Pathology, 2026

41165701 (PubMed )
Supplement: PATH-268-1-s001.zip › path6461-sup-0001-SuppMatMethFiguresS1-S18TablesS1-S9 › path6461-sup-0003-TableS4.xlsx › Variants_recurrence_cases

Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples.

Axelsson TA et al.

Bju International, 2025

39654327 (PubMed )
Supplement: BJU-135-792-s001.xlsx › Sheet1

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations

Digging into the NGS Information from a Large-Scale South European Population with Metastatic/Unresectable Pancreatic Ductal Adenocarcinoma: A Real-World Genomic Depiction.

Ziogas DC et al.

Cancers, 2023

38201431 (PubMed )
Supplement: cancers-16-00002-s001.zip › Supplementary_Tables.pdf

Altered cytoplasmic and nuclear ADP-ribosylation levels analyzed with an improved ADP-ribose binder are a prognostic factor in renal cell carcinoma.

Schraml P et al.

The Journal of Pathology. Clinical Research, 2023

36999983 (PubMed )
Supplement: CJP2-9-273-s001.xlsx › Tumor_2

Recommending revised hepatoblastoma surveillance in children with a pathogenic ARID1A variant. Reply to "Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma" by Cárcamo et al. 2022.

van der Sluijs PJ et al.

European Journal of Medical Genetics, 2023

Coffin-Siris syndrome and cancer susceptibility.

Borja NA et al.

Genetics in Medicine Open, 2023

CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.

Gutiontov SI et al.

Scientific Reports, 2021

34625620 (PubMed )
Supplement: 41598_2021_99524_MOESM2_ESM.xlsx › Mutations

Quantitative Assessment and Prognostic Associations of the Immune Landscape in Ovarian Clear Cell Carcinoma.

Khalique S et al.

Cancers, 2021

34359755 (PubMed )
Supplement: cancers-13-03854-s001.zip › cancers-1304093-OCCC.immune.Supplementary_Tables.xlsx › Supplementary_Table_2

Genetic alteration of Chinese patients with rectal mucosal melanoma.

Li H et al.

Bmc Cancer, 2021

34044811 (PubMed )
Supplement: 12885_2021_8383_MOESM1_ESM.xlsx › Supplementary_Table_1

Anaplastic Astrocytoma in a Child With Coffin-Siris Syndrome and a Germline SMARCE1 Mutation: A Case Report.

Lin B et al.

Journal of Pediatric Hematology/oncology, 2020

Integrating Genomics Into Clinical Pediatric Oncology Using the Molecular Tumor Board at the Memorial Sloan Kettering Cancer Center.

Ortiz MV et al.

Pediatric Blood & Cancer, 2016

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

Kosho T et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2014

Coffin-Siris syndrome is a SWI/SNF complex disorder.

Tsurusaki Y et al.

Clinical Genetics, 2014

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

Staahl BT et al.

Current Opinion in Neurobiology, 2013

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

Tsurusaki Y et al.

Nature Genetics, 2012

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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."