Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.K331del1
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DDX41

NM_016222.4:p.K331del1

Associated Papers

Refinement of the classification of DDX41 variants through analysis of aggregated clinical datasets.

Tiong IS et al.

Leukemia, 2026

The dynamic alterations of DDX41 mutations in patients with myelodysplastic neoplasms treated with lenalidomide.

Liu J et al.

Leukemia & Lymphoma, 2025

Oncogenic DEAD-box ATPase DDX41 establishes transcript ensembles via CLK3-dependent and -independent mechanisms.

Kim JA et al.

Nature Communications, 2025

Myeloid neoplasms risks for germline DDX41 pathogenic variants carriers.

Villy MC et al.

European Journal of Human Genetics : Ejhg, 2025

Genomic variation in DDX41 identified through clinical sequencing.

Wells C et al.

British Journal of Haematology, 2025

Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study.

Tesi B et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

40388595 (PubMed )
Supplement: ccr-24-4251_supplementary_table_3_suppst3.xlsx › Supplementary_table_3

Prevalence of cytopenia(s) and somatic variants in patients with DDX41 mutant germline predisposition syndrome.

Kusne Y et al.

British Journal of Haematology, 2025

Germline DDX41 mutations in myeloid neoplasms: the current clinical and molecular understanding.

Kida J et al.

Current Opinion in Hematology, 2025

Evaluation of the pathogenic potential of germline DDX41 variants in hematopoietic neoplasms using the ACMG/AMP guidelines.

Matsui H et al.

International Journal of Hematology, 2024

Multifunctional role of DEAD-box helicase 41 in innate immunity, hematopoiesis and disease.

Ma J et al.

Frontiers in Immunology, 2024

The clinical and genomic landscape of patients with DDX41 variants identified during diagnostic sequencing.

Maierhofer A et al.

Blood Advances, 2023

Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms.

Badar T et al.

Haematologica, 2023

Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.

Molteni E et al.

Blood, 2023

37216690 (PubMed )
Supplement: BLOOD_BLD-2022-019304-mmc1.pdf

DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation.

Rolles B et al.

Blood Cancer Journal, 2023

Germ line DDX41 mutations define a unique subtype of myeloid neoplasms.

Makishima H et al.

Blood, 2023

Current Understanding of DDX41 Mutations in Myeloid Neoplasms.

Kim K et al.

Cancers, 2023

Discriminating activities of DEAD-Box Helicase 41 from myeloid malignancy-associated germline variants by genetic rescue.

Kim JA et al.

Leukemia, 2023

Germline and Somatic Defects in DDX41 and its Impact on Myeloid Neoplasms.

Badar T et al.

Current Hematologic Malignancy Reports, 2022

Prognostic impact of DDX41 germline mutations in intensively treated acute myeloid leukemia patients: an ALFA-FILO study.

Duployez N et al.

Blood, 2022

DDX41: the poster child for familial AML.

Rio-Machin A et al.

Blood, 2022

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM4_ESM.xlsx › Sheet1

DDX41: a multifunctional DEAD-box protein involved in pre-mRNA splicing and innate immunity.

Andreou AZ

Biological Chemistry, 2021

Clinical features of DDX41 mutation-related diseases: a systematic review with individual patient data.

Wan Z et al.

Therapeutic Advances in Hematology, 2021

34349893 (PubMed )
Supplement: sj-xlsx-3-tah-10.1177_20406207211032433.xlsx › Table_S2

Germline DDX41 mutations define a significant entity within adult MDS/AML patients.

Sébert M et al.

Blood, 2019

Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms.

Carbonell D et al.

Cancers, 2019

31540291 (PubMed )
Supplement: cancers-11-01364-s001.zip › cancers-588721-SI.pdf

Germline MYOF1::WNK4 and VPS25::MYOF1 Chimeras Generated by the Constitutional Translocation t(17;19)(q21;p13) in Two Siblings With Myelodysplastic Syndrome.

Panagopoulos I et al.

Cancer Genomics & Proteomics, 0

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