Varaico: Literature-Extracted Genetic Variants

Gene:FOXC2
Variant:p.S125L
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FOXC2

NM_005251.3:p.S125L

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

Genetic Variants in the Transcription Factor Network: The Impact of FOXC1, NOTCH1, RORC, FOXC2 and SOX18 in Primary Lymphedema.

Gelanova V et al.

Lymphology, 2025

Crystal Structure of FOXC2 in Complex with DNA Target.

Li S et al.

Acs Omega, 2019

Structural basis for DNA recognition by FOXC2.

Chen X et al.

Nucleic Acids Research, 2019

In silico analysis of single nucleotide polymorphisms (SNPs) in human FOXC2 gene.

Nimir M et al.

F1000research, 2017

FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function.

Tavian D et al.

Oncotarget, 2016

FOXC2 and FLT4 Gene Variants in Lymphatic Filariasis.

Sheik Y et al.

Lymphatic Research and Biology, 2015

Novel missense mutations in the FOXC2 gene alter transcriptional activity.

van Steensel MA et al.

Human Mutation, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

Research perspectives in inherited lymphatic disease: an update.

Ferrell RE et al.

Annals of the New York Academy of Sciences, 2008

The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis.

Berry FB et al.

Human Molecular Genetics, 2005

Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.

Sholto-Douglas-Vernon C et al.

Human Genetics, 2005

Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1.

Saleem RA et al.

Human Molecular Genetics, 2003

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.

Brice G et al.

Journal of Medical Genetics, 2002

Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.

Bell R et al.

Human Genetics, 2001

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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."