Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO1
Variant:p.F2454F
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PIEZO1

NM_001142864.4:p.F2454F

Associated Papers

Proof-of-principle: nanopore adaptive sampling enables full blood group genome analysis and resolution of hybrid alleles.

Gueuning M et al.

Blood Advances, 2026

41213005 (PubMed )
Supplement: BLOODA_ADV-2025-017463-mmc2.xlsx › Table5

Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis.

Bogusławska DM et al.

Biomedicines, 2025

40002721 (PubMed )
Supplement: biomedicines-13-00308-s001.zip › biomedicines-3431635_Additional_file_2-xml.xlsx › AM_membranopathies

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
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