Varaico: Literature-Extracted Genetic Variants

Gene:DIS3
Variant:p.R780K
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DIS3

NM_014953.5:p.R780K

Associated Papers

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

Comprehensive Genomic Profiles of Melanoma in Veterans Compared to Reference Databases.

Mettman D et al.

Federal Practitioner : for the Health Care Professionals of the Va, Dod, and Phs, 2025

DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in Oogenesis.

Johnstone EB et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

DIS3: The Enigmatic Gene in Multiple Myeloma.

Ohguchi Y et al.

International Journal of Molecular Sciences, 2023

Loss of ribonuclease DIS3 hampers genome integrity in myeloma by disrupting DNA:RNA hybrid metabolism.

Gritti I et al.

The Embo Journal, 2022

NGS-Based Molecular Karyotyping of Multiple Myeloma: Results from the GEM12 Clinical Trial.

Rosa-Rosa JM et al.

Cancers, 2022

36291952 (PubMed )
Supplement: cancers-14-05169-s001.zip › cancers-1947661-supplementary › Supplementary_Tables.xlsx › Supplementary_Table_S3

Liquid Biopsy-Derived DNA Sources as Tools for Comprehensive Mutation Profiling in Multiple Myeloma: A Comparative Study.

Heestermans R et al.

Cancers, 2022

DIS3 mutations in multiple myeloma impact the transcriptional signature and clinical outcome.

Todoerti K et al.

Haematologica, 2022

33951891 (PubMed )
Supplement: 2021_278342_TODOERTI_SUPPL.pdf

Targeted genomic analysis of cutaneous T cell lymphomas identifies a subset with aggressive clinicopathological features.

Argyropoulos KV et al.

Blood Cancer Journal, 2020

33168809 (PubMed )
Supplement: 41408_2020_380_MOESM3_ESM.xlsx › Sheet1

Monosomic loss of MIR15A/MIR16-1 is a driver of multiple myeloma proliferation and disease progression.

Chesi M et al.

Blood Cancer Discovery, 2020

The RNA Exosome and Human Disease.

Fasken MB et al.

Methods in Molecular Biology (clifton, N.j.), 2020

Nuclear mRNA Surveillance Mechanisms: Function and Links to Human Disease.

Singh P et al.

Journal of Molecular Biology, 2018

Multiple Myeloma Genomics: A Systematic Review.

Weaver CJ et al.

Seminars in Oncology Nursing, 2017

A compendium of DIS3 mutations and associated transcriptional signatures in plasma cell dyscrasias.

Lionetti M et al.

Oncotarget, 2015

The 3' to 5' Exoribonuclease DIS3: From Structure and Mechanisms to Biological Functions and Role in Human Disease.

Robinson SR et al.

Biomolecules, 2015

Whole-exome sequencing of primary plasma cell leukemia discloses heterogeneous mutational patterns.

Cifola I et al.

Oncotarget, 2015

26046463 (PubMed )
Supplement: oncotarget-06-17543-s001.pdf

Longitudinal analysis of 25 sequential sample-pairs using a custom multiple myeloma mutation sequencing panel (M(3)P).

Kortüm KM et al.

Annals of Hematology, 2015

The molecular spectrum and clinical impact of DIS3 mutations in multiple myeloma.

Weißbach S et al.

British Journal of Haematology, 2015

Multiple myeloma-associated hDIS3 mutations cause perturbations in cellular RNA metabolism and suggest hDIS3 PIN domain as a potential drug target.

Tomecki R et al.

Nucleic Acids Research, 2014

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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."