Varaico: Literature-Extracted Genetic Variants

Gene:GPR179
Variant:p.D126H
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GPR179

NM_001004334.4:p.D126H

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

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

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

Audo I 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."