Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.Q1783*
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DICER1

NM_177438.3:p.Q1783*

Associated Papers

DICER1 Mutational Spectrum in Intracranial CNS-Neoplasias-A Review and a Report from the CNS-InterREST GPOH Study Center.

Manea S et al.

Cancers, 2025

40361440 (PubMed )
Supplement: cancers-17-01513-s001.zip › cancers-3488083-supplementary.xlsx › Blatt_1_-_Tabelle_1

DICER1: The Argonaute Endonuclease Family Member and Its Role in Pediatric and Youth Pathology.

Sergi CM et al.

Biology, 2025

DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: Pathology, molecular genetics, and indications for molecular testing.

Apellaniz-Ruiz M et al.

Genes, Chromosomes & Cancer, 2021

Multinodular goitre is a gateway for molecular testing of DICER1 syndrome.

Oliver-Petit I et al.

Clinical Endocrinology, 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

DICER1 Syndrome: DICER1 Mutations in Rare Cancers.

Robertson JC et al.

Cancers, 2018

Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.

de Kock L et al.

British Journal of Cancer, 2017

Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree.

Fernández-Martínez L et al.

Bmc Cancer, 2017

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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."