Varaico: Literature-Extracted Genetic Variants

Gene:MPL
Variant:p.S505N
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MPL

NM_005373.3:p.S505N

Associated Papers

High Frequency of Germline ATM Variants in Familial Philadelphia-Negative Myeloproliferative Neoplasms.

Ramundo F et al.

American Journal of Hematology, 2026

Diagnostic reassessment in myeloproliferative neoplasms: the value of functional iron parameters and JAK2 allelic burden.

González-Resina R et al.

Annals of Hematology, 2026

Clonal hematopoiesis associates with prevalent and incident cardiometabolic disease in a cardiac catheterization cohort.

Regan JA et al.

Plos One, 2026

41666166 (PubMed )
Supplement: pone.0339491.s009.xlsx › S2_Table

Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.

Colin-Leitzinger C et al.

Human Genomics, 2025

41331781 (PubMed )
Supplement: 40246_2025_847_MOESM1_ESM.pdf

Clonal hematopoiesis in apparent treatment-resistant hypertension, insights from multiple medical centers and community-based cohorts.

Lv C et al.

Nature Aging, 2025

41286462 (PubMed )
Supplement: 43587_2025_1017_MOESM4_ESM.xlsx › Sheet1

A novel complex mutation affecting two codons in the exon 10 hotspot region of the MPL gene.

Iaquinta G et al.

Current Research in Translational Medicine, 2025

Mutation profiling of chronic myeloproliferative neoplasms: improving clinical-molecular prognostic models.

Loscocco GG et al.

Expert Review of Molecular Diagnostics, 2025

Rare MPL S505N mutation in primary myelofibrosis in an elderly patient.

John NS et al.

Indian Journal of Pathology & Microbiology, 2025

Non-MPL-W515K/L mutations in myeloproliferative neoplasms: Insights from two case reports and a review of the literature.

Tønne Nesse AS et al.

Expert Review of Hematology, 2025

PreMode predicts mode-of-action of missense variants by deep graph representation learning of protein sequence and structural context.

Zhong G et al.

Nature Communications, 2025

40764308 (PubMed )
Supplement: 41467_2025_62318_MOESM4_ESM.xlsx › Sheet1

Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.

Esai Selvan M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40778119 (PubMed )
Supplement: media-2.pdf

Clonal Hematopoiesis of Indeterminate Potential Is Associated With Incident Abdominal Aortic Aneurysm.

Tan Y et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2025

40336477 (PubMed )
Supplement: atvb-2024-322630-s01.pdf

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S2

Relationship between additional mutations at diagnosis and treatment response in patients with essential thrombocythemia.

Mosnier C et al.

Blood Advances, 2025

39820709 (PubMed )
Supplement: BLOODA_ADV-2024-014791-mmc1.pdf

Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.

Colin-Leitzinger C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40166537 (PubMed )
Supplement: media-1.pdf

Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.

Wen S et al.

Nature Genetics, 2025

39948438 (PubMed )
Supplement: 41588_2025_2085_MOESM4_ESM.xlsx › ST_4

Clonal Hematopoiesis Associates with Prevalent and Incident Cardiometabolic Disease in High-Risk Individuals.

Regan JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39867361 (PubMed )
Supplement: media-1.xlsx › Supplemental_Table_2

JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.

Djidjik R et al.

Frontiers in Immunology, 2025

Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.

Zuriaga MA et al.

European Heart Journal, 2024

39212933 (PubMed )
Supplement: ehae546_supplementary_data.pdf

Prevalence and clinicopathological features of driver gene mutations profile in BCR:ABL1 negative classical myeloproliferative neoplasm-A single-center study from North India.

Rahman K et al.

Indian Journal of Pathology & Microbiology, 2024

Unidirectional association of clonal hematopoiesis with atherosclerosis development.

Díez-Díez M et al.

Nature Medicine, 2024

39215150 (PubMed )
Supplement: 41591_2024_3213_MOESM1_ESM.pdf

Structural basis of MPL activation by thrombopoietin.

Mafi A et al.

Blood Vessels, Thrombosis & Hemostasis, 2024

Analysis of CSF3R mutations in atypical chronic myeloid leukemia and other myeloid malignancies.

Kim SY et al.

Annals of Diagnostic Pathology, 2024

Association Between Clonal Hematopoiesis and Left Ventricular Reverse Remodeling in Nonischemic Dilated Cardiomyopathy.

Inoue S et al.

Jacc. Basic to Translational Science, 2024

39297129 (PubMed )
Supplement: mmc1.pdf

Initiating-clone analysis in patients with acute myeloid leukemia secondary to essential thrombocythemia.

Ushijima Y et al.

Scientific Reports, 2024

Mapping MAVE data for use in human genomics applications.

Arbesfeld JA et al.

Biorxiv : the Preprint Server for Biology, 2024

38979347 (PubMed )
Supplement: media-1.xlsx › Sheet1

Broad Next-Generation Integrated Sequencing of Myelofibrosis Identifies Disease-Specific and Age-Related Genomic Alterations.

Kandarpa M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38386293 (PubMed )
Supplement: ccr-23-0372_supplemental_table_2_suppst2.xlsx › Suppl._Table_2

Clonal evolution process from essential thrombocythemia to acute myeloid leukemia in the original patient from whom the CALR-mutated Marimo cell line was established.

Ushijima Y et al.

Nagoya Journal of Medical Science, 2024

Advances in Molecular Understanding of Polycythemia Vera, Essential Thrombocythemia, and Primary Myelofibrosis: Towards Precision Medicine.

Tashkandi H et al.

Cancers, 2024

CALR but Not JAK2 Mutations Are Associated with an Overexpression of Retinoid X Receptor Alpha in Essential Thrombocythemia.

Guijarro-Hernández A et al.

Cancers, 2024

Clinical laboratory characteristics and gene mutation spectrum of Ph-negative MPN patients with atypical variants of JAK2, MPL, or CALR.

Wang Z et al.

Cancer Medicine, 2024

Extreme thrombocytosis with an aggressive evolution harboring a novel variant of calreticulin (CALR) in exon 3.

Bonnet S et al.

European Journal of Haematology, 2024

Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.

Kubota Y et al.

Nature Communications, 2024

38418452 (PubMed )
Supplement: 41467_2024_46134_MOESM5_ESM.xlsx › Supplementary_Data_2

Cryo-EM structure of the extracellular domain of murine Thrombopoietin Receptor in complex with Thrombopoietin.

Sarson-Lawrence KTG et al.

Nature Communications, 2024

Impact of non-driver gene mutations on thrombo-haemorrhagic events in ET patients.

Furuya C et al.

British Journal of Haematology, 2024

Germline MPL mutations may be a rare cause of "triple-negative" thrombocytosis.

Borsani O et al.

Experimental Hematology, 2024

Hereditary thrombocythemia due to splicing donor site mutation of THPO in a Japanese family.

Kimura H et al.

Annals of Hematology, 2024

Clonal hematopoiesis with DNMT3A and PPM1D mutations impairs regeneration in autologous stem cell transplant recipients.

Stelmach P et al.

Haematologica, 2023

37381752 (PubMed )
Supplement: 2023_282992_STELMACH_SUPPL.pdf

Genetic background of thrombocytosis in mice mimicking hereditary thrombocytosis in humans.

Kimura H et al.

Platelets, 2023

Expanded molecular detection of MPL codon p.W515 and p.S505N mutations in myeloproliferative neoplasms.

Miller EW et al.

Journal of Clinical Laboratory Analysis, 2023

In Silico Evaluation of Coding and Non-Coding nsSNPs in the Thrombopoietin Receptor (MPL) Proto-Oncogene: Assessing Their Influence on Protein Stability, Structure, and Function.

Al-Nakhle HH et al.

Current Issues in Molecular Biology, 2023

Acute monocytic leukemia with KMT2A::LASP1 developed 9 months after diagnosis of acute megakaryoblastic leukemia in a 2-year-old boy.

Fujita T et al.

International Journal of Hematology, 2023

Rare variant associations with plasma protein levels in the UK Biobank.

Dhindsa RS et al.

Nature, 2023

37794183 (PubMed )
Supplement: 41586_2023_6547_MOESM4_ESM.zip › 2022-09-14560C-s4 › 2022-09-14560C-Supp_table_20_-_CH_qualifying_variant_list.xlsx › CH_qualifying_variants

Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk.

Yu Z et al.

The Journal of Clinical Investigation, 2023

37498674 (PubMed )
Supplement: jci-133-168597-s140.pdf

Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.

McCarter JGW et al.

Blood Advances, 2023

37142255 (PubMed )
Supplement: BLOODA_ADV-2023-009675-mmc1.xlsx › supplemental_Table_2-Mutations

Diagnosis- and Prognosis-Related Gene Alterations in BCR::ABL1-Negative Myeloproliferative Neoplasms.

Morishita S et al.

International Journal of Molecular Sciences, 2023

37629188 (PubMed )
Supplement: ijms-24-13008-s001.zip › ijms-2555672-supplementary.pdf

Clonal hematopoiesis is associated with protection from Alzheimer's disease.

Bouzid H et al.

Nature Medicine, 2023

37322115 (PubMed )
Supplement: 41591_2023_2397_MOESM3_ESM.xlsx › Supplementary_Table_1
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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."