Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA1
Variant:p.G231V
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SFTPA1

NM_005411.5:p.G231V

Associated Papers

Idiopathic Pulmonary Fibrosis: A Comprehensive Review of Risk Factors, Genetics, Diagnosis, and Therapeutic Approaches.

Senhaji L et al.

Biomedicines, 2026

Surfactant Protein (SP)-A Benefits Over SP-A Mutant: A Preliminary Study for Interstitial Lung Disease Treatment.

Desroziers T et al.

American Journal of Respiratory Cell and Molecular Biology, 2025

40591931 (PubMed )
Supplement: desroziers_data_supplement.pdf

Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.

Legendre M et al.

The European Respiratory Journal, 2020

Lost after translation: insights from pulmonary surfactant for understanding the role of alveolar epithelial dysfunction and cellular quality control in fibrotic lung disease.

Mulugeta S et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2015

Mutations of rat surfactant protein A have distinct effects on its glycosylation, secretion, aggregation and degradation.

Yang W et al.

Life Sciences, 2014

Lung fibrosis-associated surfactant protein A1 and C variants induce latent transforming growth factor β1 secretion in lung epithelial cells.

Maitra M et al.

The Journal of Biological Chemistry, 2013

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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."