Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO1
Variant:p.Q749del1
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PIEZO1

NM_001142864.4:p.Q749del1

Associated Papers

Coinheritance of polymorphic alleles of PIEZO1, G6PD and HBB enhances protection against malaria.

Abad P et al.

One Health (amsterdam, Netherlands), 2025

A 3-year-old Tanzanian Female with Glucose-6-Phosphate Dehydrogenase A- and a Novel Heterozygous PIEZO1 Mutation (2744A>G, N915S) Presenting with Severe Hemolytic Anemia.

Fustino NJ et al.

Annals of African Medicine, 2024

Distinct Genetically Determined Origins of Myd88/BCL2-Driven Aggressive Lymphoma Rationalize Targeted Therapeutic Intervention Strategies.

Flümann R et al.

Blood Cancer Discovery, 2023

36346827 (PubMed )
Supplement: bcd-22-0007_table_s6_suppst6.xlsx › D_Mut_Pat.__3

Common host variation drives malaria parasite fitness in healthy human red cells.

Ebel ER et al.

Elife, 2021

34553687 (PubMed )
Supplement: elife-69808-fig5-data3.xlsx › Sheet1

A common polymorphism in the mechanosensitive ion channel PIEZO1 is associated with protection from severe malaria in humans.

Nguetse CN et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Hereditary xerocytosis - spectrum and clinical manifestations of variants in the PIEZO1 gene, including co-occurrence with a novel β-globin mutation.

Maciak K et al.

Blood Cells, Molecules & Diseases, 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."