Varaico: Literature-Extracted Genetic Variants

Gene:FOXP1
Variant:p.R514C
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FOXP1

NM_001349338.3:p.R514C

Associated Papers

Identification of novel FOXP1 variants in four unrelated patients with intellectual disability and speech impairment.

Xiang J et al.

Frontiers in Neurology, 2026

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

The forkhead transcription factor FKH-7/FOXP acts in chemosensory neurons to regulate developmental decision-making.

Chai CM et al.

Biorxiv : the Preprint Server for Biology, 2025

FOXP1 phosphorylation antagonizes its O-GlcNAcylation in regulating ATR activation in response to replication stress.

Zhu X et al.

The Embo Journal, 2025

Clinical relevance of somatic mutations in Chinese lung adenocarcinoma and their prognostic implications for survival.

Li T et al.

Cancer Medicine, 2024

38770632 (PubMed )
Supplement: CAM4-13-e7227-s001.xlsx › Table_S2

Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals.

Koene S et al.

Journal of Medical Genetics, 2024

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion: A case report.

Lin SZ et al.

World Journal of Clinical Cases, 2021

De novo missense variants disrupting protein-protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types.

Chen S et al.

Molecular Autism, 2020

33032641 (PubMed )
Supplement: 13229_2020_386_MOESM2_ESM.xlsx › Interaction_disruptions_proband

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

Han L et al.

Molecular Genetics & Genomic Medicine, 2019

Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders.

Estruch SB et al.

Human Molecular Genetics, 2018

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.

Sollis E et al.

Human Mutation, 2017

FOXP1-related intellectual disability syndrome: a recognisable entity.

Meerschaut I et al.

Journal of Medical Genetics, 2017

Prospective investigation of FOXP1 syndrome.

Siper PM et al.

Molecular Autism, 2017

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.

Sollis E et al.

Human Molecular Genetics, 2016

Pan-Cancer Analysis of Mutation Hotspots in Protein Domains.

Miller ML et al.

Cell Systems, 2015

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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."