Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO1
Variant:p.E750Q
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PIEZO1

NM_001142864.4:p.E750Q

Associated Papers

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

Abad P et al.

One Health (amsterdam, Netherlands), 2025

STmut: a framework for visualizing somatic alterations in spatial transcriptomics data of cancer.

Chen L et al.

Genome Biology, 2023

38037084 (PubMed )
Supplement: 13059_2023_3121_MOESM1_ESM.xlsx › Sheet1

Missense mutations in PIEZO1, which encodes the Piezo1 mechanosensor protein, define Er red blood cell antigens.

Karamatic Crew V et al.

Blood, 2023

36122374 (PubMed )
Supplement: BLOOD_BLD-2022-016504-mmc1.pdf

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

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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."