Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA4
Variant:p.K785R
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SMARCA4

NM_003072.5:p.K785R

Associated Papers

Cell type-specific functions of the PBAF chromatin-remodeling complex in neuronal diversification.

Osuma A et al.

Nature Communications, 2025

41390837 (PubMed )
Supplement: 41467_2025_67434_MOESM5_ESM.pdf

Targeting ALDH16A1 mediated thioredoxin lysosomal degradation to enhance ferroptosis susceptibility in SMARCA4-deficient NSCLC.

Bi G et al.

Nature Communications, 2025

A SWI/SNF-specific Ig-like domain, SWIFT, is a transcription factor binding platform.

Jain SU et al.

Biorxiv : the Preprint Server for Biology, 2025

MYC Regulates a DNA Repair Gene Expression Program in Small Cell Carcinoma of the Ovary, Hypercalcemic Type.

Evans JR et al.

Cancers, 2025

TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.

Zhou Y et al.

Journal of Translational Medicine, 2023

38037073 (PubMed )
Supplement: 12967_2023_4742_MOESM1_ESM.xlsx › Sheet1

A disordered region controls cBAF activity via condensation and partner recruitment.

Patil A et al.

Cell, 2023

Alanine supplementation exploits glutamine dependency induced by SMARCA4/2-loss.

Zhu X et al.

Nature Communications, 2023

The Interaction of SWI/SNF with the Ribosome Regulates Translation and Confers Sensitivity to Translation Pathway Inhibitors in Cancers with Complex Perturbations.

Ulicna L et al.

Cancer Research, 2022

On the Interaction Between SMARCAL1 and BRG1.

Bisht D et al.

Frontiers in Cell and Developmental Biology, 2022

Brg1 mutation alters oxidative stress responses in glioblastoma.

Gowda P et al.

Neurochemistry International, 2021

The SWI/SNF chromatin remodeling complex helps resolve R-loop-mediated transcription-replication conflicts.

Bayona-Feliu A et al.

Nature Genetics, 2021

Re-expression of SMARCA4/BRG1 in small cell carcinoma of ovary, hypercalcemic type (SCCOHT) promotes an epithelial-like gene signature through an AP-1-dependent mechanism.

Orlando KA et al.

Elife, 2020

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

Fernando TM et al.

Nature Communications, 2020

The Discovery of SWI/SNF Chromatin Remodeling Activity as a Novel and Targetable Dependency in Uveal Melanoma.

Rago F et al.

Molecular Cancer Therapeutics, 2020

A PARP1-BRG1-SIRT1 axis promotes HR repair by reducing nucleosome density at DNA damage sites.

Chen Y et al.

Nucleic Acids Research, 2019

Heterozygous Mutations in SMARCA2 Reprogram the Enhancer Landscape by Global Retargeting of SMARCA4.

Gao F et al.

Molecular Cell, 2019

The ATPase module of mammalian SWI/SNF family complexes mediates subcomplex identity and catalytic activity-independent genomic targeting.

Pan J et al.

Nature Genetics, 2019

Elucidation of the functional roles of the Q and I motifs in the human chromatin-remodeling enzyme BRG1.

Hoffmeister H et al.

The Journal of Biological Chemistry, 2019

Dominant-negative SMARCA4 mutants alter the accessibility landscape of tissue-unrestricted enhancers.

Hodges HC et al.

Nature Structural & Molecular Biology, 2018

Smarca4 ATPase mutations disrupt direct eviction of PRC1 from chromatin.

Stanton BZ et al.

Nature Genetics, 2017

BRCA1/FANCD2/BRG1-Driven DNA Repair Stabilizes the Differentiation State of Human Mammary Epithelial Cells.

Wang H et al.

Molecular Cell, 2016

Chromatin remodeller SMARCA4 recruits topoisomerase 1 and suppresses transcription-associated genomic instability.

Husain A et al.

Nature Communications, 2016

Combined gene dosage requirement for SWI/SNF catalytic subunits during early mammalian development.

Smith-Roe SL et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2013

Participation of Brahma-related gene 1 (BRG1)-associated factor 57 and BRG1-containing chromatin remodeling complexes in thyroid hormone-dependent gene activation during vertebrate development.

Heimeier RA et al.

Molecular Endocrinology (baltimore, Md.), 2008

A role for cofactor-cofactor and cofactor-histone interactions in targeting p300, SWI/SNF and Mediator for transcription.

Huang ZQ et al.

The Embo Journal, 2003

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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."