Varaico: Literature-Extracted Genetic Variants

Gene:TRPM3
Variant:p.I65M
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TRPM3

NM_001366145.2:p.I65M

Associated Papers

Lens aging and disease: Molecular mechanisms, functional consequences, and pharmacological implications.

Fan X et al.

Progress in Retinal and Eye Research, 2026

A Cataract-Causing Mutation in the TRPM3 Cation Channel Disrupts Calcium Dynamics in the Lens.

Zhou Y et al.

Cells, 2024

The newest TRP channelopathy: Gain of function TRPM3 mutations cause epilepsy and intellectual disability.

Zhao S et al.

Channels (austin, Tex.), 2021

TRP channels in health and disease at a glance.

Yue L et al.

Journal of Cell Science, 2021

Mutation of the TRPM3 cation channel underlies progressive cataract development and lens calcification associated with pro-fibrotic and immune cell responses.

Zhou Y et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021

TRPM3_miR-204: a complex locus for eye development and disease.

Shiels A

Human Genomics, 2020

Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.

Bennett TM et al.

Plos One, 2014

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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."