Varaico: Literature-Extracted Genetic Variants

Gene:FOXE3
Variant:p.R90L
Back to variants list

FOXE3

NM_012186.3:p.R90L

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 › TableS1A

Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.

King J et al.

Biorxiv : the Preprint Server for Biology, 2025

40488133 (PubMed )
Supplement: media-2.xlsx › ClinVar

Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.

Akbar W et al.

The Journal of Gene Medicine, 2024

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.

Reis LM et al.

Human Molecular Genetics, 2021

Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.

Reis LM et al.

Human Genetics, 2019

FOXE3 mutations: genotype-phenotype correlations.

Plaisancié J et al.

Clinical Genetics, 2018

Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.

Anand D et al.

Human Mutation, 2018

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.

Kuang SQ et al.

The Journal of Clinical Investigation, 2016

Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease.

Islam L et al.

Human Mutation, 2015

Personalized diagnosis and management of congenital cataract by next-generation sequencing.

Gillespie RL et al.

Ophthalmology, 2014

Genetics of anterior segment dysgenesis disorders.

Reis LM et al.

Current Opinion in Ophthalmology, 2011

A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly.

Doucette L et al.

European Journal of Human Genetics : Ejhg, 2011

Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.

Brémond-Gignac D et al.

Molecular Vision, 2010

Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.

Ali M et al.

Molecular Vision, 2010

FOXE3 plays a significant role in autosomal recessive microphthalmia.

Reis LM et al.

American Journal of Medical Genetics. Part A, 2010

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.

Iseri SU et al.

Human Mutation, 2009

Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.

Valleix S et al.

American Journal of Human Genetics, 2006

The genetic and molecular basis of congenital eye defects.

Graw J

Nature Reviews. Genetics, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."