Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.A116D
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SFTPC

NM_001317778.2:p.A116D

Associated Papers

Clinical characteristics of SFTPC gene mutations in children: a single-center experience.

Yang T et al.

Italian Journal of Pediatrics, 2025

40890883 (PubMed )
Supplement: 13052_2025_2101_MOESM3_ESM.doc

Systematic review of drug effects in humans and models with surfactant-processing disease.

Klay D et al.

European Respiratory Review : an Official Journal of the European Respiratory Society, 2018

Recurrent diffuse lung disease due to surfactant protein C deficiency.

Kazzi B et al.

Respiratory Medicine Case Reports, 2018

A novel surfactant protein C mutation resulting in aberrant protein processing and altered subcellular localization causes infantile interstitial lung disease.

Hong D et al.

Pediatric Research, 2017

A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy.

Litao MK et al.

Pediatric Pulmonology, 2017

A novel surfactant protein C L55F mutation associated with interstitial lung disease alters subcellular localization of proSP-C in A549 cells.

Liu T et al.

Pediatric Research, 2016

SFTPC mutations cause SP-C degradation and aggregate formation without increasing ER stress.

Thurm T et al.

European Journal of Clinical Investigation, 2013

The surfactant protein C mutation A116D alters cellular processing, stress tolerance, surfactant lipid composition, and immune cell activation.

Zarbock R et al.

Bmc Pulmonary Medicine, 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."