Varaico: Literature-Extracted Genetic Variants

Gene:CHD4
Variant:p.R572Q
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CHD4

NM_001273.5:p.R572Q

Associated Papers

ATPase-deficient CHD7 disease variant disrupts neural development via chromatin dysregulation.

Wang G et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Chromatin Remodulator CHD4: A Potential Target for Cancer Interception.

Goswami K et al.

Genes, 2025

Role of Chromodomain-Helicase-DNA-Binding Protein 4 (CHD4) in Breast Cancer.

Novillo A et al.

Frontiers in Oncology, 2021

Nucleosome-CHD4 chromatin remodeler structure maps human disease mutations.

Farnung L et al.

Elife, 2020

Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Boot A et al.

Genome Research, 2020

32661091 (PubMed )
Supplement: supp_gr.255620.119_Supplemental_Table_S2.xlsx › Sheet1

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Drivers-not-HR

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s022.xlsx › CRC.Drivers.Edited

Tumour-associated missense mutations in the dMi-2 ATPase alters nucleosome remodelling properties in a mutation-specific manner.

Kovač K et al.

Nature Communications, 2018

Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.

Le Gallo M et al.

Nature Genetics, 2012

23104009 (PubMed )
Supplement: NIHMS412622-supplement-1.pdf
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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."