Varaico: Literature-Extracted Genetic Variants

Gene:MAF
Variant:p.D90V
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MAF

NM_005360.5:p.D90V

Associated Papers

Mapping of CELF1-RNA interactions reveals post-transcriptional control of lens development.

Viet J et al.

Biorxiv : the Preprint Server for Biology, 2026

Novel cataract-causing variant c.177dupC in c-MAF regulates the expression of crystallin genes for cell apoptosis via a mitochondria-dependent pathway.

Li L et al.

Molecular Genetics and Genomics : Mgg, 2023

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

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.

Niceta M et al.

American Journal of Human Genetics, 2015

Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes.

Vanita V et al.

Molecular and Cellular Biochemistry, 2014

Molecular genetics of congenital nuclear cataract.

Deng H et al.

European Journal of Medical Genetics, 2014

A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation.

Perveen R et al.

Human Molecular Genetics, 2007

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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."