Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA1
Variant:p.V178M
Back to variants list

SFTPA1

NM_005411.5:p.V178M

Associated Papers

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

High risk of lung cancer in surfactant-related gene variant carriers.

Brudon A et al.

The European Respiratory Journal, 2024

Rare surfactant-related variants in familial and sporadic pulmonary fibrosis.

Sutton RM et al.

Human Mutation, 2022

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

A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia.

Doubková M et al.

Human Genome Variation, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."