Varaico: Literature-Extracted Genetic Variants

Gene:NR2E3
Variant:p.V302I
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NR2E3

NM_014249.4:p.V302I

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

Heterodimers of photoreceptor-specific nuclear receptor (PNR/NR2E3) and peroxisome proliferator-activated receptor-γ (PPARγ) are disrupted by retinal disease-associated mutations.

Fulton J et al.

Cell Death & Disease, 2017

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

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

Haider NB et al.

Nature Genetics, 2000

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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."