Varaico: Literature-Extracted Genetic Variants

Gene:AGO2
Variant:p.C751Y
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AGO2

NM_012154.5:p.C751Y

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Lyn

Ribonucleases in Mendelian disease: Characterization and insight from model organisms.

Dutta A et al.

Genes & Diseases, 2025

41630789 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Lyn

Identification of a novel AGO2 variant causing LESKRES in a Chinese family with intellectual disability.

Yang S et al.

Frontiers in Genetics, 2025

Germline AGO2 mutations impair RNA interference and human neurological development.

Lessel D et al.

Nature Communications, 2020

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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."