Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.E69K
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FOXL2

NM_023067.4:p.E69K

Associated Papers

The Genetics and Biology of FOXL2.

Tucker EJ

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022

Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.

Takayanagi D et al.

Cancers, 2021

33802174 (PubMed )
Supplement: cancers-13-01215-s001.zip › Supplymentary_files › Supplymental_table.xlsx › TableS2

Mutational probing of the forkhead domain of the transcription factor FOXL2 provides insights into the pathogenicity of naturally occurring mutations.

Todeschini AL et al.

Human Molecular Genetics, 2011

Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients.

Kaur I et al.

The British Journal of Ophthalmology, 2011

Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems.

Dipietromaria A et al.

Human Molecular Genetics, 2009

Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations.

Benayoun BA et al.

Human Molecular Genetics, 2009

The transcription factor FOXL2 in ovarian function and dysfunction.

De Baere E et al.

Folia Histochemica Et Cytobiologica, 2009

Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.

Nallathambi J et al.

Human Mutation, 2008

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

Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Or SF et al.

Chinese Medical Journal, 2006

The human FOXL2 mutation database.

Beysen D et al.

Human Mutation, 2004

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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."