Varaico: Literature-Extracted Genetic Variants

Gene:TRPM1
Variant:p.R96C
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TRPM1

NM_001252024.2:p.R96C

Associated Papers

Unique pore architecture underlies constitutive gating of human retinal TRPM1.

Sharma M et al.

Biorxiv : the Preprint Server for Biology, 2026

Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.

Zeitz C et al.

Progress in Retinal and Eye Research, 2015

Transient receptor potential genes and human inherited disease.

Everett KV

Advances in Experimental Medicine and Biology, 2011

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

Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.

van Genderen MM 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."