Varaico: Literature-Extracted Genetic Variants

Gene:CALR
Variant:p.L367fs
Back to variants list

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

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

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

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc6.xlsx › Sheet1

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 › S3

ELC52: a novel megakaryocytic leukemia cell line with a CALR type 1 mutation.

Yamamoto Y et al.

Leukemia, 2025

Case Report: A novel t(15;17)(q24;q11.2) translocation involving NF1::SCAMP5 fusion in a patient with myeloproliferative neoplasms.

Chang Y et al.

Frontiers in Oncology, 2025

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

Djidjik R et al.

Frontiers in Immunology, 2025

Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.

Burren OS et al.

Nature Genetics, 2024

39192095 (PubMed )
Supplement: 41588_2024_1884_MOESM4_ESM.xlsx › ST7_ExWAS

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

Human ASXL1-Mutant Hematopoiesis Is Driven by a Truncated Protein Associated with Aberrant Deubiquitination of H2AK119.

Köhnke T et al.

Blood Cancer Discovery, 2024

38359087 (PubMed )
Supplement: bcd-23-0235_supplementary_figures_s1_-_s11_suppsf1.pdf

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

Outcome heterogeneity of TP53-mutated myeloid neoplasms and the role of allogeneic hematopoietic cell transplantation.

Pasca S et al.

Haematologica, 2024

37731390 (PubMed )
Supplement: 2023_283886_PASCA_SUPPL.pdf

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

Acute myeloid leukemia with a novel AKAP9::PDGFRA fusion transformed from essential thrombocythemia: A case report and mini review.

Sahin Y et al.

Leukemia Research Reports, 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

Transcriptomic comparison of bone marrow CD34 + cells and peripheral blood neutrophils from ET patients with JAK2 or CALR mutations.

Guijarro-Hernández A et al.

Bmc Genomic Data, 2023

37550636 (PubMed )
Supplement: 12863_2023_1142_MOESM1_ESM.xlsx › Hoja1

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

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

Wang YH et al.

International Journal of Molecular Sciences, 2023

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

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

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

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

Abdelghani M et al.

Journal of Clinical Laboratory Analysis, 2022

CHST15 gene germline mutation is associated with the development of familial myeloproliferative neoplasms and higher transformation risk.

Chen Y et al.

Cell Death & Disease, 2022

In utero origin of myelofibrosis presenting in adult monozygotic twins.

Sousos N et al.

Nature Medicine, 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

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

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

Tan J et al.

Bmc Medical Genomics, 2022

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

Olschok K et al.

Stem Cell Reports, 2021

34678208 (PubMed )
Supplement: mmc1.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

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

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

Zhou FP et al.

World Journal of Clinical Cases, 2020

Myelofibrosis biology and contemporary management.

Gangat N et al.

British Journal of Haematology, 2020

1–50 of 170 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."