Varaico: Literature-Extracted Genetic Variants

Gene:CALR
Variant:p.K385fs
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CALR

NM_004343.4:p.K385fs

Associated Papers

Quantification of plasma mutant calreticulin for diagnosis and therapeutic response assessment of peginterferon-α in myeloproliferative neoplasms: A proof-of-concept study.

Tian J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026

Low-VAF TP53-Mutated AML Displays Distinct Biological Features in a Single-Center Cohort.

Lu X et al.

Biomedicines, 2026

41595714 (PubMed )
Supplement: biomedicines-14-00180-s001.zip › biomedicines-4047568-supplementary.pdf

Leukocytosis and a JAK2 mutation: The importance of expertise in somatic variant interpretation.

Puzo CJ et al.

Leukemia Research Reports, 2026

A rare CALR exon 9 mutation p.E379Vfs*53 in AYA generation exhibits gain-of-function nature and can induce essential thrombocythemia; a case report.

Nagaharu K et al.

Hematology (amsterdam, Netherlands), 2025

CALR-mutated myeloproliferative neoplasms.

Bellani V et al.

Leukemia & Lymphoma, 2025

Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers.

Marshall CH et al.

Cancers, 2025

40361359 (PubMed )
Supplement: cancers-17-01432-s001.zip › cancers-3524691-supplementary.xlsx › Sheet1

Clearance of Driver Mutations after Transplantation for Myelofibrosis.

Gagelmann N et al.

The New England Journal of Medicine, 2025

39778169 (PubMed )
Supplement: nejmoa2408941_appendix.pdf

Insights into the role of JAK2-I724T variant in myeloproliferative neoplasms from a unique cohort of New Zealand patients.

Puli'uvea C et al.

Hematology (amsterdam, Netherlands), 2024

38197452 (PubMed )
Supplement: supplement_1.docx

Triple immunostaining demonstrates the possible existence of segregated-nucleus-containing atypical monocytes in human primary myelofibrosis bone marrow: a case report.

Homma S et al.

Journal of Medical Case Reports, 2024

High-resolution melting assay for rapid, simultaneous detection of JAK2, MPL and CALR variants.

Sande CM et al.

Journal of Clinical Pathology, 2024

37156613 (PubMed )
Supplement: jcp-77-9-s002.xlsx › Sheet1

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

Ushijima Y et al.

Scientific Reports, 2024

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

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

Impact of CALR and JAK2V617F Mutations on Clinical Course and Disease Outcomes in Essential Thrombocythemia: A Multicenter Retrospective Study in Turkish Patients.

Narlı Özdemir Z et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2024

Identification and characterization of calreticulin as a novel plasminogen receptor.

Bharadwaj AG et al.

The Journal of Biological Chemistry, 2024

COMPASS: joint copy number and mutation phylogeny reconstruction from amplicon single-cell sequencing data.

Sollier E et al.

Nature Communications, 2023

37582954 (PubMed )
Supplement: 41467_2023_40378_MOESM1_ESM.pdf

Clinical Characteristics and Outcomes of Patients with Primary and Secondary Myelofibrosis According to the Genomic Classification Using Targeted Next-Generation Sequencing.

Garrote M et al.

Cancers, 2023

37568719 (PubMed )
Supplement: cancers-15-03904-s001.zip › cancers-2478235-supplementary.pdf

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable2

Patient-Derived iPSCs Faithfully Represent the Genetic Diversity and Cellular Architecture of Human Acute Myeloid Leukemia.

Kotini AG et al.

Blood Cancer Discovery, 2023

37067914 (PubMed )
Supplement: bcd-22-0167_supplementary_tables_1-6_suppst1-st6.pdf

Mutation-Driven S100A8 Overexpression Confers Aberrant Phenotypes in Type 1 CALR-Mutated MPN.

Wang YH et al.

International Journal of Molecular Sciences, 2023

Clinical and molecular characteristics of forty Chinese children with essential thrombocythemia: A single-center, retrospective analysis.

Zhang L et al.

British Journal of Haematology, 2023

Advances in molecular evaluation of myeloproliferative neoplasms.

Li N et al.

Seminars in Diagnostic Pathology, 2023

Human gene-engineered calreticulin mutant stem cells recapitulate MPN hallmarks and identify targetable vulnerabilities.

Foßelteder J et al.

Leukemia, 2023

A customized mass array panel for BCR::ABL1 tyrosine kinase domain mutation screening in chronic myeloid leukemia.

Limsuwanachot N et al.

Journal of Mass Spectrometry and Advances in the Clinical Lab, 2023

Structural and Dynamic Differences between Calreticulin Mutants Associated with Essential Thrombocythemia.

Radjasandirane R et al.

Biomolecules, 2023

Case report: Application of targeted NGS for the detection of non-canonical driver variants in MPN.

Zhang J et al.

Frontiers in Genetics, 2023

Expression properties, structural features and functional analysis of CALR E381A in MPN patients.

Xu K et al.

American Journal of Translational Research, 2023

Leukemic conversion involving RAS mutations of type 1 CALR-mutated primary myelofibrosis in a patient treated for HCV cirrhosis: a case report.

Gurban P et al.

Frontiers in Oncology, 2023

Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Cheng WY et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36442087 (PubMed )
Supplement: pnas.2211429119.sd02.xlsx › snv_indel

Hematological relevance of JAK2 V617F and calreticulin mutations in Tunisian patients with essential thrombocythemia.

Abdelghani M et al.

Journal of Clinical Laboratory Analysis, 2022

Next-Generation Sequencing Panel Test in Myeloid Neoplasms and Evaluation with the Clinical Results.

Kahraman CY et al.

The Eurasian Journal of Medicine, 2022

Study of CALR, MPL, and c-kit Gene Mutations in Thai Patients with JAK2 V617F Negative Myeloproliferative Neoplasms.

Wiriyaukaradecha K et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2022

RAPID LOW-COST DETECTION OF TYPE 2CALR MUTATION BY ALLELE-SPECIFIC RT-PCR FOR DIAGNOSIS OF MYELOPROLIFERATIVE NEOPLASMS.

Dybkov MV et al.

Experimental Oncology, 2022

How I Diagnose Primary Myelofibrosis.

Prakash S et al.

American Journal of Clinical Pathology, 2022

Pathogenic "germline" variants associated with myeloproliferative disorders in apparently normal individuals: Inherited or acquired genetic alterations?

Veitia RA et al.

Clinical Genetics, 2022

CALR-ETdb, the database of calreticulin variants diversity in essential thrombocythemia.

El Jahrani N et al.

Platelets, 2022

CALR frameshift mutations in MPN patient-derived iPSCs accelerate maturation of megakaryocytes.

Olschok K et al.

Stem Cell Reports, 2021

34678208 (PubMed )
Supplement: mmc2.pdf

Mapping human calreticulin regions important for structural stability.

Čiplys E et al.

Biochimica Et Biophysica Acta. Proteins and Proteomics, 2021

A Comparison of Two Molecular Methods for Detecting CALR Mutations in Myeloproliferative Neoplasms.

Chan TH et al.

Clinical Laboratory, 2021

Mechanism of mutant calreticulin-mediated activation of the thrombopoietin receptor in cancers.

Venkatesan A et al.

The Journal of Cell Biology, 2021

Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.

Stockklausner C et al.

Annals of Hematology, 2021

The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.

Ayala R et al.

Cancers, 2021

34070172 (PubMed )
Supplement: cancers-13-02458-s001.zip › cancers-1203671-supplementary › Table_S8.xlsx › Hoja2

Disease modifying agents of myeloproliferative neoplasms: a review.

Lee SE

Blood Research, 2021

Activated IL-6 signaling contributes to the pathogenesis of, and is a novel therapeutic target for, CALR-mutated MPNs.

Balliu M et al.

Blood Advances, 2021

A Review of Molecular and Genetic Diagnostics of Myeloid Malignancies with Emphasis on Diagnostics in Bosnia and Herzegovina.

Kurtovic-Kozaric A et al.

Acta Medica Academica, 2021

The Contemporary Approach to CALR-Positive Myeloproliferative Neoplasms.

Belčič Mikič T et al.

International Journal of Molecular Sciences, 2021

Cardiotoxicity of Novel Targeted Hematological Therapies.

Giudice V et al.

Life (basel, Switzerland), 2020

Clonal Evolution after Allogeneic Hematopoietic Stem Cell Transplantation: The Case of Myelofibrosis.

Christopeit M et al.

Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2020

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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."