Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA4
Variant:p.R973W
Back to variants list

SMARCA4

NM_003072.5:p.R973W

Associated Papers

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A

Detection of Targetable Genetic Abnormalities in Neuroblastoma Circulating Tumour DNA.

Danilenko M et al.

International Journal of Molecular Sciences, 2025

Computational modeling of human genetic variants in mice.

Dong K et al.

Biorxiv : the Preprint Server for Biology, 2025

40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_9_SMARCA2_4_and_Paralogous_Library.xlsx › Sheet1_SMARCA2_4_pathogenecity

Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.

Küçükosmanoglu A et al.

Molecular Oncology, 2024

38757376 (PubMed )
Supplement: MOL2-18-2407-s001.xlsx › 1B_Cases_composite_mutations

Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.

Valencia AM et al.

Nature Genetics, 2023

Whole-Exome Sequencing Reveals Clinical Potential of Circulating Tumor DNA from Peritoneal Fluid and Plasma in Endometrial Cancer.

Ju HY et al.

Cancers, 2022

35626111 (PubMed )
Supplement: cancers-14-02506-s001.zip › Supplementary_Tables.xlsx › Supplementary_Table_S2

Structure of human chromatin-remodelling PBAF complex bound to a nucleosome.

Yuan J et al.

Nature, 2022

Somatic Mutations in Circulating Cell-Free DNA and Risk for Hepatocellular Carcinoma in Hispanics.

Jiao J et al.

International Journal of Molecular Sciences, 2021

34299031 (PubMed )
Supplement: ijms-22-07411-s001.zip › Supplementary_Table__S3_Final.pdf

DNA Methylation, Deamination, and Translesion Synthesis Combine to Generate Footprint Mutations in Cancer Driver Genes in B-Cell Derived Lymphomas and Other Cancers.

Rogozin IB et al.

Frontiers in Genetics, 2021

34093666 (PubMed )
Supplement: Data_Sheet_2.xls › Sheet1

Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.

Fernando TM et al.

Nature Communications, 2020

33144586 (PubMed )
Supplement: 41467_2020_19402_MOESM6_ESM.xlsx › Sheet1

Study of chromatin remodeling genes implicates SMARCA4 as a putative player in oncogenesis in neuroblastoma.

Bellini A et al.

International Journal of Cancer, 2019

31018240 (PubMed )
Supplement: IJC-145-2781-s002.xlsx › Table_S3

Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma.

López C et al.

Nature Communications, 2019

30926794 (PubMed )
Supplement: 41467_2019_8578_MOESM9_ESM.xlsx › Tabelle3__3_

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

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › SK-N-SH

Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours.

Izquierdo E et al.

Oncotarget, 2017

29340109 (PubMed )
Supplement: oncotarget-08-112036-s004.xlsx › Samples

Deletion of 11q in Neuroblastomas Drives Sensitivity to PARP Inhibition.

Sanmartín E et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

28830922 (PubMed )
Supplement: 10780432ccr170593-sup-179482_3_supp_4200607_ddbcdd.xlsx › Cell_lines

High-Throughput Genomic Profiling of Adult Solid Tumors Reveals Novel Insights into Cancer Pathogenesis.

Hartmaier RJ et al.

Cancer Research, 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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."