Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO1
Variant:p.I2265V
Back to variants list

PIEZO1

NM_001142864.4:p.I2265V

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

Genetic Analysis of 23 SNVs of Nine Genes Involved in RBC Membranopathies with the Hematological Parameters of Mexican Patients.

Espinoza-Mata LL et al.

Genetic Testing and Molecular Biomarkers, 2026

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

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Natural History of Germline BRCA1 Mutated and BRCA Wild-type Triple-negative Breast Cancer.

Gardi N et al.

Cancer Research Communications, 2024

38315150 (PubMed )
Supplement: crc-23-0277-s13.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

Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma.

Shah MH et al.

Indian Journal of Ophthalmology, 2021

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."