Varaico: Literature-Extracted Genetic Variants

Gene:GPR179
Variant:p.Y220C
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GPR179

NM_001004334.4:p.Y220C

Associated Papers

Cryo-EM structure of human class C orphan GPCR GPR179 involved in visual processing.

Yun Y et al.

Nature Communications, 2024

Structure of the photoreceptor synaptic assembly of the extracellular matrix protein pikachurin with the orphan receptor GPR179.

Patil DN et al.

Science Signaling, 2023

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

Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness.

Orhan E et al.

Investigative Ophthalmology & Visual Science, 2013

Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model.

Klooster J et al.

Investigative Ophthalmology & Visual Science, 2013

GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.

Peachey NS et al.

American Journal of Human Genetics, 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."