Varaico: Literature-Extracted Genetic Variants

Gene:FOXC2
Variant:p.R121H
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FOXC2

NM_005251.3:p.R121H

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

FOXC2 Disease Mutations Identified in Lymphedema Distichiasis Patients Impair Transcriptional Activity and Cell Proliferation.

Tavian D et al.

International Journal of Molecular Sciences, 2020

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

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

Sollis E et al.

Human Mutation, 2017

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

A five generation family with a novel mutation in FOXC2 and lymphedema worsening to hydrops in the youngest generation.

Sargent C et al.

American Journal of Medical Genetics. Part A, 2014

Novel missense mutations in the FOXC2 gene alter transcriptional activity.

van Steensel MA et al.

Human Mutation, 2009

Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.

Beysen D et al.

Human Molecular Genetics, 2008

Research perspectives in inherited lymphatic disease: an update.

Ferrell RE et al.

Annals of the New York Academy of Sciences, 2008

Functional genetic analysis of mutations implicated in a human speech and language disorder.

Vernes SC et al.

Human Molecular Genetics, 2006

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

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

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