Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA2
Variant:p.V50L
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SFTPA2

NM_001098668.4:p.V50L

Associated Papers

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

SFTPA2 Mutations in Familial and Sporadic Idiopathic Interstitial Pneumonia.

van Moorsel CH et al.

American Journal of Respiratory and Critical Care Medicine, 2015

Idiopathic pulmonary fibrosis: update on genetic discoveries.

Garcia CK

Proceedings of the American Thoracic Society, 2011

Surfactant protein A2 mutations associated with pulmonary fibrosis lead to protein instability and endoplasmic reticulum stress.

Maitra M et al.

The Journal of Biological Chemistry, 2010

Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer.

Wang Y et al.

American Journal of Human Genetics, 2009

Data mining and multiparameter analysis of lung surfactant protein genes in bronchopulmonary dysplasia.

Rova M et al.

Human Molecular Genetics, 2004

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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."