Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA1
Variant:p.R219W
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SFTPA1

NM_005411.5:p.R219W

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table1.XLS › Sheet

Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn.

Wang M et al.

Respiratory Research, 2020

32054482 (PubMed )
Supplement: 12931_2020_1314_MOESM1_ESM.xlsx › S6

Genetic Polymorphisms of SP-A, SP-B, and SP-D and Risk of Respiratory Distress Syndrome in Preterm Neonates.

Chang HY et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2016

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

Nathan N et al.

Human Molecular Genetics, 2016

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

Unknown Author

The Journal of Biological Chemistry, 2015

Surfactant protein A genetic variants associate with severe respiratory insufficiency in pandemic influenza A virus infection.

Herrera-Ramos E et al.

Critical Care (london, England), 2014

Epithelial SCAP/INSIG/SREBP signaling regulates multiple biological processes during perinatal lung maturation.

Bridges JP et al.

Plos One, 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

SP-A1, SP-A2 and SP-D gene polymorphisms in severe acute respiratory syncytial infection in Chilean infants.

Ampuero S et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2011

Exploring the potential relevance of human-specific genes to complex disease.

Cooper DN et al.

Human Genomics, 2011

Polymorphisms in the surfactant protein a gene are associated with the susceptibility to recurrent urinary tract infection in chinese women.

Liu J et al.

The Tohoku Journal of Experimental Medicine, 2010

Novel strategy to identify genetic risk factors for COPD severity: a genetic isolate.

van Diemen CC et al.

The European Respiratory Journal, 2010

Genetic polymorphisms in the surfactant proteins in systemic sclerosis in Japanese: T/T genotype at 1580 C/T (Thr131Ile) in the SP-B gene reduces the risk of interstitial lung disease.

Sumita Y et al.

Rheumatology (oxford, England), 2008

Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia.

Malik S et al.

Human Genetics, 2006

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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."