Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA1
Variant:p.W211R
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SFTPA1

NM_005411.5:p.W211R

Associated Papers

Penetrance of interstitial lung disease and lung cancer in carriers of SFTPA1 or SFTPA2 pathogenic variants.

Ducrot L et al.

Erj Open Research, 2025

A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.

Villeneuve J et al.

American Journal of Respiratory Cell and Molecular Biology, 2024

Consensus Gene Co-Expression Network Analysis Identifies Novel Genes Associated with Severity of Fibrotic Lung Disease.

Ghandikota S et al.

International Journal of Molecular Sciences, 2022

35628257 (PubMed )
Supplement: ijms-23-05447-s001.zip › Supplementary_Table_S1_known_pulm_fibrosis.xlsx › Disgenet

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

Common Pathogenic Mechanisms Between Idiopathic Pulmonary Fibrosis and Lung Cancer.

Tzouvelekis A et al.

Chest, 2019

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.

Nathan N et al.

Human Molecular Genetics, 2016

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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."