Varaico: Literature-Extracted Genetic Variants

Gene:CALR
Variant:p.L367fs
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CALR

NM_004343.4:p.L367fs

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

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

CALR Type 1-Like Mutations Increase Endoplasmic Reticulum Free Ca2+ and Induce ERK1/2 Activation Independent of Thrombopoietin Receptor Activation.

Faiz M et al.

Cell Biology International, 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_MOESM1_ESM.xlsx › Sheet1

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

Larráyoz MJ et al.

Cancers, 2025

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

Presence of triple positive driver mutations in JAK2, CALR and MPL in primary myelofibrosis: a case report and literature review.

Zhao L et al.

Hematology (amsterdam, Netherlands), 2024

Cell-free DNA from nail clippings as source of normal control for genomic studies in hematologic malignancies.

Krystel-Whittemore M et al.

Haematologica, 2024

38450530 (PubMed )
Supplement: 2024_285054_KRYSTEL-WHITTEMORE_SUPPL.pdf

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

Detecting Multiple Driver Mutations in a Patient with Essential Thrombocythemia.

Sharma S et al.

The American Journal of Case Reports, 2024

Molecular Genetic Profile of Myelofibrosis: Implications in the Diagnosis, Prognosis, and Treatment Advancements.

Verma T et al.

Cancers, 2024

Clonal dynamics and copy number variants by single-cell analysis in leukemic evolution of myeloproliferative neoplasms.

Calabresi L et al.

American Journal of Hematology, 2023

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

ASXL1 mutations accelerate bone marrow fibrosis via EGR1-TNFA axis-mediated neoplastic fibrocyte generation in myeloproliferative neoplasms.

Shi Z et al.

Haematologica, 2023

36005555 (PubMed )
Supplement: 2021_280320_SHI_SUPPL.pdf

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

Compartment-specific mutational landscape of clonal hematopoiesis.

Hartmann L et al.

Leukemia, 2022

36131041 (PubMed )
Supplement: 41375_2022_1700_MOESM1_ESM.pdf

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

Kim HY et al.

Diagnostics (basel, Switzerland), 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

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

Targeting human CALR-mutated MPN progenitors with a neoepitope-directed monoclonal antibody.

Tvorogov D et al.

Embo Reports, 2022

35156745 (PubMed )
Supplement: EMBR-23-e52904-s006.pdf

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

Pathologic Spectrum and Molecular Landscape of Myeloid Disorders Harboring SF3B1 Mutations.

Venable ER et al.

American Journal of Clinical Pathology, 2021

33978189 (PubMed )
Supplement: aqab010_suppl_supplementary_materials.docx

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_MOESM10_ESM.pdf

Primary myelofibrosis with concurrent CALR and MPL mutations: A case report.

Zhou FP et al.

World Journal of Clinical Cases, 2020

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

Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design.

Aguilera-Diaz A et al.

Plos One, 2020

CALR mutations in a cohort of JAK2 V617F negative patients with suspected myeloproliferative neoplasms.

Belcic Mikic T et al.

Scientific Reports, 2019

Implementation of an NGS-based sequencing and gene fusion panel for clinical screening of patients with suspected hematologic malignancies.

Levy MA et al.

European Journal of Haematology, 2019

Somatic mutations and cell identity linked by Genotyping of Transcriptomes.

Nam AS et al.

Nature, 2019

31270458 (PubMed )
Supplement: NIHMS1531200-supplement-sup_tab_1.xlsx › Sheet1

Coexisting driver mutations in MPN: clinical and molecular characteristics of a series of 11 patients.

De Roeck L et al.

Hematology (amsterdam, Netherlands), 2018

A novel type of +2-base pair frameshift CALR mutation in a patient with myeloproliferative neoplasm.

Kim HY et al.

European Journal of Haematology, 2018

Co-occurrence of type I CALR and two MPL mutations in patient with primary myelofibrosis.

Tashkandi H et al.

Annals of Hematology, 2017

Application of an NGS-based 28-gene panel in myeloproliferative neoplasms reveals distinct mutation patterns in essential thrombocythaemia, primary myelofibrosis and polycythaemia vera.

Delic S et al.

British Journal of Haematology, 2016

27447873 (PubMed )
Supplement: supplement_1.doc

Jumping translocations in myelodysplastic syndromes.

Yeung CCS et al.

Cancer Genetics, 2016

Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies.

Saliba J et al.

Nature Genetics, 2015

Alpha thalassemia trait masquerading as hemoglobin H disease due to co-existing primary myelofibrosis.

So CC et al.

Annals of Hematology, 2015

Differential association of calreticulin type 1 and type 2 mutations with myelofibrosis and essential thrombocytemia: relevance for disease evolution.

Cabagnols X et al.

Leukemia, 2015

X chromosome inactivation analysis reveals a difference in the biology of ET patients with JAK2 and CALR mutations.

Allen C et al.

Blood, 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."