Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.K283I
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SERPINA1

NM_000295.5:p.K283I

Associated Papers

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

Capturing the conversion of the pathogenic alpha-1-antitrypsin fold by ATF6 enhanced proteostasis.

Sun S et al.

Cell Chemical Biology, 2023

Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency.

Giacopuzzi E et al.

Human Mutation, 2018

Three new alpha1-antitrypsin deficiency variants help to define a C-terminal region regulating conformational change and polymerization.

Fra AM et al.

Plos One, 2012

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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."