Varaico: Literature-Extracted Genetic Variants

Gene:RD3
Variant:p.R167K
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RD3

NM_001164688.2:p.R167K

Associated Papers

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM11_ESM.xlsx › SD7_-_Drug_Targets

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

Perrault I et al.

Plos One, 2013

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-File011.xls › TypeIII

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.

Friedman JS et al.

American Journal of Human Genetics, 2006

RD3: a challenge and a promise.

Azadi S

Jsm Biotechnology & Biomedical Engineering, 0

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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."