Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.I178V
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OPN1LW

NM_020061.6:p.I178V

Associated Papers

Genetic Architecture of Myopia and Its Implications for Risk Stratification and Prognosis.

Seo Y et al.

Diagnostics (basel, Switzerland), 2026

Clinical and Molecular Landscape of GLRA2 in X-Linked Early-Onset High Myopia.

Li X et al.

Investigative Ophthalmology & Visual Science, 2025

Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism.

Wang Y et al.

Investigative Ophthalmology & Visual Science, 2023

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.

Haer-Wigman L et al.

Npj Genomic Medicine, 2022

Ocular findings and genomics of X-linked recessive disorders: A review.

Hassan A et al.

Indian Journal of Ophthalmology, 2022

Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.

Stingl K et al.

International Journal of Molecular Sciences, 2022

An overview of myopia genetics.

Cai XB et al.

Experimental Eye Research, 2019

Mutational signatures and the genomic landscape of betel quid chewing-associated tongue carcinoma.

Zhang W et al.

Cancer Medicine, 2019

30672146 (PubMed )
Supplement: CAM4-8-701-s012.xlsx › Table_S11

Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X.

Orosz O et al.

Investigative Ophthalmology & Visual Science, 2017

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.

Buena-Atienza E et al.

Scientific Reports, 2016

Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1.

Li J et al.

Investigative Ophthalmology & Visual Science, 2015

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Watson CM et al.

Plos One, 2014

25133751 (PubMed )
Supplement: pone.0104281.s001.pdf

X-linked cone dystrophy caused by mutation of the red and green cone opsins.

Gardner JC et al.

American Journal of Human Genetics, 2010

Signatures of selection and gene conversion associated with human color vision variation.

Verrelli BC et al.

American Journal of Human Genetics, 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."