Varaico: Literature-Extracted Genetic Variants

Gene:CHD4
Variant:p.S851Y
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CHD4

NM_001273.5:p.S851Y

Associated Papers

In silico Analysis of CHD4 Mutations Reveals Domain-Specific Impacts on Cardiovascular Disorders Among Patients With Rare Diseases.

Novillo A et al.

Human Mutation, 2026

Chromatin Remodulator CHD4: A Potential Target for Cancer Interception.

Goswami K et al.

Genes, 2025

A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1).

Da Silva JD et al.

Biomedicines, 2022

36672520 (PubMed )
Supplement: biomedicines-11-00012-s001.zip › Table_S2-S5.xlsx › Table_S5

Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins.

Cardoso AR et al.

Genes, 2021

CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia.

Liu XR et al.

Cns Neuroscience & Therapeutics, 2021

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

Audain E et al.

Plos Genetics, 2021

34324492 (PubMed )
Supplement: pgen.1009679.s019.xlsx › Sheet_B

Nucleosome-CHD4 chromatin remodeler structure maps human disease mutations.

Farnung L et al.

Elife, 2020

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Sifrim A et al.

Nature Genetics, 2016

27479907 (PubMed )
Supplement: NIHMS69098-supplement-Supplementary_figures.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."