Varaico: Literature-Extracted Genetic Variants

Gene:RGR
Variant:p.S245F
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RGR

NM_002921.4:p.S245F

Associated Papers

Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid.

Sangiorgi E et al.

Genes, 2023

38002998 (PubMed )
Supplement: genes-14-02055-s001.zip › SupplementaryTable2.xlsx › Foglio1

Identification and functional assays of single-nucleotide variants of opsins genes in melanocytic tumors.

Zhang W et al.

Pigment Cell & Melanoma Research, 2022

RGR variants in different forms of retinal diseases: The undetermined role of truncation mutations.

Li J et al.

Molecular Medicine Reports, 2016

Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.

Clark GR et al.

Ophthalmology, 2010

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII

Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.

Bernal S et al.

Journal of Medical Genetics, 2003

Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.

Morimura H et al.

Nature Genetics, 1999

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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."