Varaico: Literature-Extracted Genetic Variants

Gene:ARID1A
Variant:p.R1335*
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ARID1A

NM_006015.6:p.R1335*

Associated Papers

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

Haploinsufficient phenotypes promote selection of PTEN and ARID1A-deficient clones in human colon.

Skoufou-Papoutsaki N et al.

Embo Reports, 2025

Decoding the molecular landscape: HER2 and PD-L1 in advanced gastric cancer.

Yao J et al.

Frontiers in Immunology, 2025

40519936 (PubMed )
Supplement: Table1.xlsx › SNV

Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.

Pinheiro M et al.

Nature Communications, 2024

39266536 (PubMed )
Supplement: 41467_2024_51713_MOESM5_ESM.xlsx › Data_2

Biomarker analysis of the ASPEN study comparing zanubrutinib with ibrutinib for patients with Waldenström macroglobulinemia.

Tam CS et al.

Blood Advances, 2024

38315878 (PubMed )
Supplement: BLOODA_ADV-2023-010906-mmc1.pdf

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_mutations

ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.

Zhou Y et al.

Science Advances, 2023

37992168 (PubMed )
Supplement: sciadv.adg2263_tables_s1_to_s5.zip › adg2263_Table_S1.xlsx › Genomic_data

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.

Lee K et al.

Scientific Reports, 2023

37336919 (PubMed )
Supplement: 41598_2023_35925_MOESM1_ESM.xlsx › Table_S4__patho_variants_

Validation and Clinical Application of ONCOaccuPanel for Targeted Next-Generation Sequencing of Solid Tumors.

Kim M et al.

Cancer Research and Treatment, 2023

Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.

Liu ZX et al.

Jama Network Open, 2022

36484990 (PubMed )
Supplement: jamanetwopen-e2245836-s002.xlsx › Table_S3

Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Ghezelayagh TS et al.

Cancer Research Communications, 2022

Somatic Mutational Landscape in Mexican Patients: CDH1 Mutations and chr20q13.33 Amplifications Are Associated with Diffuse-Type Gastric Adenocarcinoma.

Cerrato-Izaguirre D et al.

International Journal of Molecular Sciences, 2022

36232418 (PubMed )
Supplement: ijms-23-11116-s001.zip › ijms-1877046-supplementary.pdf

EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Li Z et al.

Bmc Pulmonary Medicine, 2022

36123678 (PubMed )
Supplement: 12890_2022_2161_MOESM2_ESM.xlsx › OAK_POPLAR_btmb_variants

Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Sánchez-Rivera FJ et al.

Nature Biotechnology, 2022

35165384 (PubMed )
Supplement: NIHMS1760571-supplement-Supplementary_Table_S2.xlsx › Table_S2C

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

Multi-omics profiling of primary small cell carcinoma of the esophagus reveals RB1 disruption and additional molecular subtypes.

Li R et al.

Nature Communications, 2021

34145257 (PubMed )
Supplement: 41467_2021_24043_MOESM5_ESM.xlsx › Sheet1

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

A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.

Hoyer K et al.

Ebiomedicine, 2021

33862582 (PubMed )
Supplement: mmc3.xlsx › S5

Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.

Takayanagi D et al.

Cancers, 2021

33802174 (PubMed )
Supplement: cancers-13-01215-s001.zip › Supplymentary_files › Supplymental_table.xlsx › TableS2

Genetic aberrations in Chinese pancreatic cancer patients and their association with anatomic location and disease outcomes.

Lu J et al.

Cancer Medicine, 2021

Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.

Abdel-Wahab R et al.

Scientific Reports, 2020

33328484 (PubMed )
Supplement: 41598_2020_77939_MOESM1_ESM.xlsx › Sheet1

Molecular profiling identifies synchronous endometrial and ovarian cancers as metastatic endometrial cancer with favorable clinical outcome.

Reijnen C et al.

International Journal of Cancer, 2020

32022266 (PubMed )
Supplement: IJC-147-478-s001.pdf

NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Bertucci F et al.

Molecular Oncology, 2020

31854063 (PubMed )
Supplement: MOL2-14-504-s010.xlsx › TableS3

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM10_ESM.xlsx › Sheet1

Genetic Tracing of Clonal Expansion and Progression of Pancreatic Ductal Adenocarcinoma: A Case Report and Multi-Region Sequencing Analysis.

Tachibana S et al.

Frontiers in Oncology, 2020

32582528 (PubMed )
Supplement: Table_1.XLSX › g_MPD_in_Ph_HG_PanIN

Hsa-miR-155-5p Up-Regulation in Breast Cancer and Its Relevance for Treatment With Poly[ADP-Ribose] Polymerase 1 (PARP-1) Inhibitors.

Pasculli B et al.

Frontiers in Oncology, 2020

32903519 (PubMed )
Supplement: Table_1.xlsx › Supplemental_Table_7_

PEDIA: prioritization of exome data by image analysis.

Hsieh TC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1

Patient-derived organoids from endometrial disease capture clinical heterogeneity and are amenable to drug screening.

Boretto M et al.

Nature Cell Biology, 2019

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

Targeted mutation detection in breast cancer using MammaSeq™.

Smith NG et al.

Breast Cancer Research : Bcr, 2019

30736836 (PubMed )
Supplement: 13058_2019_1102_MOESM2_ESM.xlsx › Sheet1

Contribution of allelic imbalance to colorectal cancer.

Palin K et al.

Nature Communications, 2018

30202008 (PubMed )
Supplement: 41467_2018_6132_MOESM11_ESM.xlsx › Somatic_mutations_in_234_MSS_CR

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon

Targeted Next-Generation Sequencing Identifies Actionable Targets in Estrogen Receptor Positive and Estrogen Receptor Negative Endometriod Endometrial Cancer.

Suhaimi SS et al.

Frontiers in Pharmacology, 2018

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

Sokpor G et al.

Frontiers in Molecular Neuroscience, 2017

Differential clonal evolution in oesophageal cancers in response to neo-adjuvant chemotherapy.

Findlay JM et al.

Nature Communications, 2016

27045317 (PubMed )
Supplement: ncomms11111-s1.pdf

Cyclin-dependent kinase pathway aberrations in diverse malignancies: clinical and molecular characteristics.

Kato S et al.

Cell Cycle (georgetown, Tex.), 2015

25695927 (PubMed )
Supplement: kccy-14-08-1014149-s001.pdf

Bioinformatics analysis of thousands of TCGA tumors to determine the involvement of epigenetic regulators in human cancer.

Gnad F et al.

Bmc Genomics, 2015

26110843 (PubMed )
Supplement: 1471-2164-16-S8-S5-S7.xls › RecurrentMutations

Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Xie M et al.

Nature Medicine, 2014

25326804 (PubMed )
Supplement: NIHMS630249-supplement-7.xlsx › supplementaryTable3b.txt

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

Use of mutation profiles to refine the classification of endometrial carcinomas.

McConechy MK et al.

The Journal of Pathology, 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."