Varaico: Literature-Extracted Genetic Variants

Gene:GPR179
Variant:p.H603Y
Back to variants list

GPR179

NM_001004334.4:p.H603Y

Associated Papers

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

Yun Y et al.

Nature Communications, 2024

Whole exome sequencing: Uncovering causal genetic variants for ocular diseases.

Gupta S et al.

Experimental Eye Research, 2017

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

Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort.

Malaichamy S et al.

Molecular Vision, 2014

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."