Varaico: Literature-Extracted Genetic Variants

Gene:OPN1SW
Variant:p.T190I
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OPN1SW

NM_001385125.1:p.T190I

Associated Papers

Identification and functional assays of single-nucleotide variants of opsins genes in melanocytic tumors.

Zhang W et al.

Pigment Cell & Melanoma Research, 2022

Tritan color vision deficiency may be associated with an OPN1SW splicing defect and haploinsufficiency.

Neitz M et al.

Journal of the Optical Society of America. A, Optics, Image Science, and Vision, 2020

S cones: Evolution, retinal distribution, development, and spectral sensitivity.

Hunt DM et al.

Visual Neuroscience, 2014

Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities.

Baraas RC et al.

Vision Research, 2012

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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."