Varaico: Literature-Extracted Genetic Variants

Gene:OPTC
Variant:p.L268P
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OPTC

NM_014359.4:p.L268P

Associated Papers

Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.

Rajeh A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808834 (PubMed )
Supplement: media-2.xlsx › pnSomatic_supplement_tableS2

Sequence features, structure, ligand interaction, and diseases in small leucine rich repeat proteoglycans.

Matsushima N et al.

Journal of Cell Communication and Signaling, 2021

Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

Maguire SL et al.

The Journal of Pathology, 2016

27512948 (PubMed )
Supplement: PATH-240-315-s015.xlsx › Table_S2

An evaluation of OPTC and EPYC as candidate genes for high myopia.

Wang P et al.

Molecular Vision, 2009

Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.

Kumar A et al.

Molecular Vision, 2007

Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.

Acharya M et al.

Bmc Molecular Biology, 2007

Evaluation of Optineurin as a candidate gene in Indian patients with primary open angle glaucoma.

Mukhopadhyay A et al.

Molecular Vision, 2005

Protein localization in the human eye and genetic screen of opticin.

Friedman JS et al.

Human Molecular Genetics, 2002

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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."