Varaico: Literature-Extracted Genetic Variants

Gene:FOXC2
Variant:p.R121C
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FOXC2

NM_005251.3:p.R121C

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

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Malhotra A et al.

Hgg Advances, 2025

40195116 (PubMed )
Supplement: mmc1.xlsx › Multiple_molecular_diagnoses

[Clinical features and genetic analysis of two Chinese pedigrees affected with Lymphedema-Distichiasis syndrome].

Li J et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024

Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis.

Zhou X et al.

Frontiers in Genetics, 2021

Crystal Structure of FOXC2 in Complex with DNA Target.

Li S et al.

Acs Omega, 2019

Human venous valve disease caused by mutations in FOXC2 and GJC2.

Lyons O et al.

The Journal of Experimental Medicine, 2017

28724617 (PubMed )
Supplement: JEM_20160875_sm.pdf

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

Tavian D et al.

Oncotarget, 2016

FOXM1 binds directly to non-consensus sequences in the human genome.

Sanders DA et al.

Genome Biology, 2015

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

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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."