Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.R230H
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FOXG1

NM_005249.5:p.R230H

Associated Papers

Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.

King J et al.

Cell Reports, 2025

41124077 (PubMed )
Supplement: NIHMS2125804-supplement-2.xlsx › TableS1B

Functional defects in FOXG1 variants predict the severity of brain anomalies in FOXG1 syndrome.

Lin TY et al.

Molecular Psychiatry, 2025

Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome.

Bjerregaard VA et al.

Genes, 2023

Combined in Silico Prediction Methods, Molecular Dynamic Simulation, and Molecular Docking of FOXG1 Missense Mutations: Effect on FoxG1 Structure and Its Interactions with DNA and Bmi-1 Protein.

Kharrat M et al.

Journal of Molecular Neuroscience : Mn, 2022

Whole-Exome Sequencing Could Distinguish Primary Pulmonary Squamous Cell Carcinoma From Lung Metastases in Individuals With Cervical Squamous Cell Carcinoma.

Li L et al.

Pathology Oncology Research : Por, 2022

35645619 (PubMed )
Supplement: DataSheet1.xlsx › Supptable_2_Somatic_mutation

In Silico Study of Rett Syndrome Treatment-Related Genes, MECP2, CDKL5, and FOXG1, by Evolutionary Classification and Disordered Region Assessment.

Fahmi M et al.

International Journal of Molecular Sciences, 2019

31717404 (PubMed )
Supplement: ijms-20-05593-s001.zip › supplementary_table.xlsx › Table_S4

FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms.

Wong LC et al.

International Journal of Molecular Sciences, 2019

31454984 (PubMed )
Supplement: ijms-20-04176-s001.pdf

Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders.

Han L et al.

Molecular Genetics & Genomic Medicine, 2019

31199603 (PubMed )
Supplement: MGG3-7-e00789-s001.xlsx › Table_S1

Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.

Vegas N et al.

Neurology. Genetics, 2018

FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome.

Takahashi S et al.

Clinical Genetics, 2012

A case of congenital Rett variant in a Chinese patient caused by a FOXG1 mutation.

Niu Y et al.

Annals of Saudi Medicine, 0

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