Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.D1709A
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DICER1

NM_177438.3:p.D1709A

Associated Papers

Somatic DICER1 pathogenic variants detected in a well-differentiated fetal lung adenocarcinoma diagnosed in a man with familial adenomatous polyposis.

Ahmed A et al.

Bjc Reports, 2025

Extraskeletal chondroma of the toe in a child with DICER1 tumor predisposition syndrome: support for a dominant negative mechanism.

Pelletier D et al.

Virchows Archiv : an International Journal of Pathology, 2024

Morphological and Molecular Characteristics in Low Grade Fetal Adenocarcinoma of the Lung: Two Case Reports and Literature Review.

Yanagawa N et al.

International Journal of Surgical Pathology, 2022

Highly Sensitive Detection Method of DICER1 Tumor Hotspot Mutations by Drop-off Droplet Digital PCR.

Vibert R et al.

Clinical Chemistry, 2022

Morphologic, Immunohistochemical, and Genetic Differences Between High-grade and Low-grade Fetal Adenocarcinomas of the Lung.

Li Y et al.

The American Journal of Surgical Pathology, 2021

RNA structure probing reveals the structural basis of Dicer binding and cleavage.

Luo QJ et al.

Nature Communications, 2021

Predominant DICER1 Pathogenic Variants in Pediatric Follicular Thyroid Carcinomas.

Lee YA et al.

Thyroid : Official Journal of the American Thyroid Association, 2020

Hotspot Mutations in DICER1 Causing GLOW Syndrome-Associated Macrocephaly via Modulation of Specific microRNA Populations Result in the Activation of PI3K/ATK/mTOR Signaling.

Klein SD et al.

Microrna (shariqah, United Arab Emirates), 2020

Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes.

de Kock L et al.

Human Mutation, 2019

Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Brown AL et al.

Plos Computational Biology, 2019

31034466 (PubMed )
Supplement: pcbi.1006981.s010.xlsx › final_benchmark

Cancer-associated somatic DICER1 hotspot mutations cause defective miRNA processing and reverse-strand expression bias to predominantly mature 3p strands through loss of 5p strand cleavage.

Anglesio MS et al.

The Journal of Pathology, 2013

Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers.

Heravi-Moussavi A et al.

The New England Journal of Medicine, 2012

Homodimeric structure and double-stranded RNA cleavage activity of the C-terminal RNase III domain of human dicer.

Takeshita D et al.

Journal of Molecular Biology, 2007

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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."