Varaico: Literature-Extracted Genetic Variants

Gene:TRPM1
Variant:p.Y56C
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TRPM1

NM_002420.6:p.Y56C

Associated Papers

Unique pore architecture underlies constitutive gating of human retinal TRPM1.

Sharma M et al.

Biorxiv : the Preprint Server for Biology, 2026

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.

Li Z et al.

American Journal of Human Genetics, 2009

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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."