Varaico: Literature-Extracted Genetic Variants

Gene:CALR
Variant:p.K385insFs
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CALR

NM_004343.4:p.K385insFs

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

CALR-mutant myeloproliferative neoplasms: insights from next-generation sequencing.

Mroczkowska-Bękarciak A et al.

Journal of Applied Genetics, 2026

Clonal haematopoiesis of indeterminate potential and mortality in coronary artery disease.

von Scheidt M et al.

European Heart Journal, 2026

40900105 (PubMed )
Supplement: ehaf602_supplementary_data.pdf

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

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM9_ESM.xlsx › Sheet1

Clonal haematopoiesis associates with distinct cytometric changes of red blood cells and platelets.

Salzbrunn JB et al.

British Journal of Haematology, 2025

40754673 (PubMed )
Supplement: BJH-207-1085-s002.xlsx › CH_cohort

From Sanger to Oxford Nanopore MinION Technology: The Impact of Third-Generation Sequencing on Genetic Hematological Diagnosis.

Larráyoz MJ et al.

Cancers, 2025

Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.

Odintsov I et al.

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

39820259 (PubMed )
Supplement: ccr-24-3277_supplementary_table_s1_suppts1.xlsx › SNV_INDEL

Emergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction.

Baldazzi C et al.

International Journal of Molecular Sciences, 2025

39940930 (PubMed )
Supplement: ijms-26-01162-s001.zip › Supplementary_Table_S1.xlsx › Supplementary_Table_1

Molecular Profile of BCR-ABL1 Negative Myeloproliferative Neoplasm in a Moroccan Population.

Soro SGC et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2024

The Role of Mutated Calreticulin in the Pathogenesis of BCR-ABL1-Negative Myeloproliferative Neoplasms.

Vadeikienė R et al.

International Journal of Molecular Sciences, 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

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

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

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

Leukocytes carrying Clonal Hematopoiesis of Indeterminate Potential (CHIP) Mutations invade Human Atherosclerotic Plaques.

von Scheidt M et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37546840 (PubMed )
Supplement: media-1.pdf

A rare CALR variant mutation and efficient peginterferon alfa-2a response in a patient with essential thrombocythemia.

Ciftciler R et al.

Cancer Genetics, 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

Secreted mutant calreticulins as rogue cytokines in myeloproliferative neoplasms.

Pecquet C et al.

Blood, 2023

HRAS mutation positive multiple myeloma in the type 2 CALR mutation positive essential thrombocythemia: A case report.

Lewandowski K et al.

Journal of Cellular and Molecular Medicine, 2023

The clinical relevance of broad mutational screening of myeloproliferative neoplasms at diagnosis.

Pettersson H et al.

Frontiers in Oncology, 2023

37637067 (PubMed )
Supplement: Table_1.xlsx › Supplementary_table_1

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

Effects of CALR-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms.

Kim HY et al.

Diagnostics (basel, Switzerland), 2022

Secondary chronic myeloid leukemia in a patient with CALR and ASXL1-mutated primary myelofibrosis.

Sobieralski P et al.

International Journal of Hematology, 2022

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

Abdelghani M et al.

Journal of Clinical Laboratory Analysis, 2022

Mutation Profile in BCR-ABL1-Negative Myeloproliferative Neoplasms: A Single-Center Experience From India.

Maddali M et al.

Hematology/oncology and Stem Cell Therapy, 2022

Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Adema V et al.

Ebiomedicine, 2022

35617825 (PubMed )
Supplement: mmc3.xlsx › Suppl_Table_3

Single-cell analysis reveals selection of TP53-mutated clones after MDM2 inhibition.

Maslah N et al.

Blood Advances, 2022

35030630 (PubMed )
Supplement: advancesADV2021005867-suppl1.pdf

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

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S4.xlsx › Clinically_reported_Indels

Technological Advances: CEBPA and FLT3 Internal Tandem Duplication Mutations Can be Reliably Detected by Next Generation Sequencing.

Akabari R et al.

Genes, 2022

Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis.

Cheng CK et al.

Ejhaem, 2022

35846205 (PubMed )
Supplement: JHA2-3-184-s002.xlsx › All_MPN_cases

Analysis of genetic variants in myeloproliferative neoplasms using a 22-gene next-generation sequencing panel.

Tan J et al.

Bmc Medical Genomics, 2022

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

El Jahrani N et al.

Platelets, 2022

Conformation sensitive gel electrophoresis for the detection of calreticulin mutations in BCR-ABL1-negative myeloproliferative neoplasms.

Zakaria NA et al.

International Journal of Laboratory Hematology, 2021

Myeloproliferative neoplasms with a low (<5%) CALR mutation allele burden.

Lee Tokar L et al.

Blood Cells, Molecules & Diseases, 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

Myeloproliferative neoplasm-driving Calr frameshift promotes the development of pulmonary hypertension in mice.

Minakawa K et al.

Journal of Hematology & Oncology, 2021

33785036 (PubMed )
Supplement: 13045_2021_1064_MOESM7_ESM.pdf

The risk of thrombosis in essential thrombocythemia is associated with the type of CALR mutation: A multicentre collaborative study.

Pérez Encinas MM et al.

European Journal of Haematology, 2021

A Broad Overview of Signaling in Ph-Negative Classic Myeloproliferative Neoplasms.

Guijarro-Hernández A et al.

Cancers, 2021

Clonal independence of JAK2 and CALR or MPL mutations in comutated myeloproliferative neoplasms demonstrated by single cell DNA sequencing.

Thompson ER et al.

Haematologica, 2021

Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms.

Rosenthal SH et al.

Plos One, 2021

33909614 (PubMed )
Supplement: pone.0243683.s006.xlsx › S6

Analytical and Potential Clinical Performance of Oncomine Myeloid Research Assay for Myeloid Neoplasms.

Park J et al.

Molecular Diagnosis & Therapy, 2020

Genetic Variant Detection in the CALR gene using High Resolution Melting Analysis.

Pajič T et al.

Journal of Visualized Experiments : Jove, 2020

A Novel Pathogenic CALR Exon 9 Mutation in a Patient with Essential Thrombocythemia.

Lee JS et al.

Laboratory Medicine, 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."