Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.Y104H
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SFTPC

NM_001317778.2:p.Y104H

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

A comparative analysis of clinical phenotypes and outcomes in childhood interstitial lung disease due to surfactant dysfunction disorders: focusing on mutations in SFTPC, ABCA3, and NKX2-1 genes.

Tang X et al.

Italian Journal of Pediatrics, 2025

Cryptotanshinone is a candidate therapeutic agent for interstitial lung disease associated with a BRICHOS-domain mutation of SFTPC.

Hosokawa M et al.

Iscience, 2023

Surfactant protein C dysfunction with new clinical insights for diffuse alveolar hemorrhage and autoimmunity.

Tang X et al.

Pediatric Investigation, 2019

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

Litao MK et al.

Pediatric Pulmonology, 2017

Familial interstitial pneumonia in an adolescent boy with surfactant protein C gene (Y104H) mutation.

Kuse N et al.

Sarcoidosis, Vasculitis, and Diffuse Lung Diseases : Official Journal of Wasog, 2013

C-terminal, endoplasmic reticulum-lumenal domain of prosurfactant protein C - structural features and membrane interactions.

Casals C et al.

The Febs Journal, 2008

A surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activation.

Mulugeta S et al.

American Journal of Respiratory Cell and Molecular Biology, 2005

Interstitial lung disease in children -- genetic background and associated phenotypes.

Hartl D et al.

Respiratory Research, 2005

Mutations in the surfactant protein C gene associated with interstitial lung disease.

Nogee LM et al.

Chest, 2002

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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."