Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.F251C
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SERPINA1

NM_000295.5:p.F251C

Associated Papers

Multiplex, multimodal mapping of variant effects in secreted proteins.

Popp NA et al.

Biorxiv : the Preprint Server for Biology, 2025

Spatial covariance reveals isothiocyanate natural products adjust redox stress to restore function in alpha-1-antitrypsin deficiency.

Sun S et al.

Cell Reports. Medicine, 2025

39809267 (PubMed )
Supplement: mmc2.xlsx › Figure_5

Tracing genetic diversity captures the molecular basis of misfolding disease.

Zhao P et al.

Nature Communications, 2024

Novel SERPINA1 Alleles Identified through a Large Alpha-1 Antitrypsin Deficiency Screening Program and Review of Known Variants.

Wiesemann GS et al.

Chronic Obstructive Pulmonary Diseases (miami, Fla.), 2023

Leveraging Population Genomics for Individualized Correction of the Hallmarks of Alpha-1 Antitrypsin Deficiency.

Wang C et al.

Chronic Obstructive Pulmonary Diseases (miami, Fla.), 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."