Varaico: Literature-Extracted Genetic Variants

Gene:ETNK1
Variant:p.G245V
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ETNK1

NM_018638.5:p.G245V

Associated Papers

Clonal Hematopoiesis of Indeterminate Potential Is Associated With Incident Abdominal Aortic Aneurysm.

Tan Y et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2025

40336477 (PubMed )
Supplement: atvb-2024-322630-s01.pdf

Molecular and clinical characterization of ETNK1-mutated myeloid neoplasms: the Mayo Clinic experience.

Tessier S et al.

Blood Advances, 2024

Chronic neutrophilic leukemia and atypical chronic myeloid leukemia: 2024 update on diagnosis, genetics, risk stratification, and management.

Szuber N et al.

American Journal of Hematology, 2024

ETNK1 mutation occurs in a wide spectrum of myeloid neoplasms and is not specific for atypical chronic myeloid leukemia.

Shuai W et al.

Cancer, 2023

Molecular Pathogenesis of BCR-ABL-Negative Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Frontiers in Oncology, 2021

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s004.xlsx › Foglio1

ETNK1 mutations induce a mutator phenotype that can be reverted with phosphoethanolamine.

Fontana D et al.

Nature Communications, 2020

Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms.

Carbonell D et al.

Cancers, 2019

31540291 (PubMed )
Supplement: cancers-11-01364-s001.zip › cancers-588721-SI.pdf
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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."