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

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

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

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

Larráyoz MJ et al.

Cancers, 2025

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 › S7

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

RSK1 is an exploitable dependency in myeloproliferative neoplasms and secondary acute myeloid leukemia.

Kong T et al.

Nature Communications, 2025

39820365 (PubMed )
Supplement: 41467_2024_55643_MOESM3_ESM.xlsx › WashU_Cohort_RNAseq

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

Verma T et al.

Cancers, 2024

Genomics of clonal evolution in a rare essential thrombocythemia with coexisting Type 2 CALR and MPL S204P mutations.

Wang J et al.

Platelets, 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

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

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

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

Radjasandirane R et al.

Biomolecules, 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

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

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

Maslah N et al.

Blood Advances, 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

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

Lee Tokar L et al.

Blood Cells, Molecules & Diseases, 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_MOESM10_ESM.pdf

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.s002.xlsx › S2

Single-cell mutation analysis of clonal evolution in myeloid malignancies.

Miles LA et al.

Nature, 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

Recurrent genetic HLA loss in AML relapsed after matched unrelated allogeneic hematopoietic cell transplantation.

Jan M et al.

Blood Advances, 2019

31324640 (PubMed )
Supplement: baadv2019000445-suppl6.xlsx › Recurrent_Mutations_in_MN

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

Isolation of T cell receptors targeting recurrent neoantigens in hematological malignancies.

Tubb VM et al.

Journal for Immunotherapy of Cancer, 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

INDELseek: detection of complex insertions and deletions from next-generation sequencing data.

Au CH et al.

Bmc Genomics, 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

Routine clinical mutation profiling using next generation sequencing and a customized gene panel improves diagnostic precision in myeloid neoplasms.

Bartels S et al.

Oncotarget, 2016

27029036 (PubMed )
Supplement: oncotarget-07-30084-s002.xlsx › Table_S5

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

Saliba J et al.

Nature Genetics, 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."