Varaico: Literature-Extracted Genetic Variants

Gene:ARID1A
Variant:p.Q372fs
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ARID1A

NM_006015.6:p.Q372fs

Associated Papers

Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.

Huang CY et al.

Bmc Cancer, 2025

41068688 (PubMed )
Supplement: 12885_2025_15053_MOESM2_ESM.xlsx › Table.S4

High-grade endometrioid carcinomas with pilomatrix-like features lacking CTNNB1 Mutations: Clinicopathologic characteristics and novel molecular events.

Qin L et al.

Human Pathology, 2025

DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.

Tan S et al.

Cancer, 2025

39876053 (PubMed )
Supplement: supplement_1.pdf

Clinicogenomic landscape of pancreatic adenocarcinoma identifies KRAS mutant dosage as prognostic of overall survival.

Varghese AM et al.

Nature Medicine, 2025

39753968 (PubMed )
Supplement: 41591_2024_3362_MOESM2_ESM.xlsx › SupplementaryTable2_IMPACT_Alts

ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification.

Barnada SM et al.

American Journal of Human Genetics, 2024

Efficacy of immunotherapy in ARID1A-mutant solid tumors: a single-center retrospective study.

Zhou H et al.

Discover Oncology, 2024

38847966 (PubMed )
Supplement: 12672_2024_1074_MOESM2_ESM.xlsx › Sheet1

Pan-cancer clinical impact of latent drivers from double mutations.

Yavuz BR et al.

Communications Biology, 2023

36808143 (PubMed )
Supplement: 42003_2023_4519_MOESM3_ESM.xlsx › VariantClasses

Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Hu L et al.

Npj Breast Cancer, 2022

35449176 (PubMed )
Supplement: 41523_2022_417_MOESM3_ESM.xlsx › Sheet1

Recurrent mutations in topoisomerase IIα cause a previously undescribed mutator phenotype in human cancers.

Boot A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

35058360 (PubMed )
Supplement: pnas.2114024119.sd08.xlsx › Dataset.S8

Therapeutic targeting of ARID1A and PI3K/AKT pathway alterations in cholangiocarcinoma.

Tessiri S et al.

Peerj, 2022

35070505 (PubMed )
Supplement: peerj-10-12750-s003.xlsx › Supplemental_Table1

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."