Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.D1810G
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DICER1

NM_177438.3:p.D1810G

Associated Papers

An Unusual Enteric Yolk Sac Tumor: First Report of an Ovarian Germ Cell Tumor Associated With a Germline Pathogenic Variant in DICER1.

McCluggage WG et al.

International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2022

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

Vibert R et al.

Clinical Chemistry, 2022

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.

Pontén E et al.

Journal of Medical Genetics, 2022

33208384 (PubMed )
Supplement: jmedgenet-2020-107385supp002.pdf

Development of an optimal protocol for molecular profiling of tumor cells in pleural effusions at single-cell level.

Nakamura IT et al.

Cancer Science, 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

Presacral malignant teratoid neoplasm in association with pathogenic DICER1 variation.

Nakano Y et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

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

de Kock L et al.

Human Mutation, 2019

Cancer-associated mutations in DICER1 RNase IIIa and IIIb domains exert similar effects on miRNA biogenesis.

Vedanayagam J et al.

Nature Communications, 2019

31417090 (PubMed )
Supplement: 41467_2019_11610_MOESM5_ESM.xlsx › msk_clinical_2

Germline mutations and somatic inactivation of TRIM28 in Wilms tumour.

Halliday BJ et al.

Plos Genetics, 2018

29912901 (PubMed )
Supplement: pgen.1007399.s002.xlsx › Sheet2

Role of Dicer1 in thyroid cell proliferation and differentiation.

Penha RCC et al.

Cell Cycle (georgetown, Tex.), 2017

DICER1: mutations, microRNAs and mechanisms.

Foulkes WD et al.

Nature Reviews. Cancer, 2014

DICER1 hotspot mutations in non-epithelial gonadal tumours.

Witkowski L et al.

British Journal of Cancer, 2013

Biallelic DICER1 mutations occur in Wilms tumours.

Wu MK et al.

The Journal of Pathology, 2013

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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."