Varaico: Literature-Extracted Genetic Variants

Gene:NR2E3
Variant:p.G88V
Back to variants list

NR2E3

NM_014249.4:p.G88V

Associated Papers

Orphan nuclear receptor NR2E3 is a new molecular vulnerability in solid tumors by activating p53.

Wang Y et al.

Cell Death & Disease, 2025

Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease.

Toms M et al.

Genes, 2023

NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).

Schorderet DF et al.

Human Mutation, 2009

A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.

Kanda A et al.

Molecular Vision, 2009

Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.

Roduit R et al.

Plos One, 2009

Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.

Escher P et al.

Human Mutation, 2009

Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.

Coppieters F et al.

American Journal of Human Genetics, 2007

Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.

Hayashi T et al.

Ophthalmology, 2005

Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.

Wright AF et al.

Human Mutation, 2004

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."