NSF c.1348_1349inv ;(p.S450D)

Variant ID: 17-44772002-TC-GA

NM_006178.3(NSF):c.1348_1349inv;(p.S450D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The surfactant protein C mutation A116D alters cellular processing, stress tolerance, surfactant lipid composition, and immune cell activation.

Bmc Pulmonary Medicine
Zarbock, Ralf R; Woischnik, Markus M; Sparr, Christiane C; Thurm, Tobias T; Kern, Sunčana S; Kaltenborn, Eva E; Hector, Andreas A; Hartl, Dominik D; Liebisch, Gerhard G; Schmitz, Gerd G; Griese, Matthias M
Publication Date: 2012-03-29

Variant appearance in text: NSF: S450D
PubMed Link: 22458263
Variant Present in the following documents:
  • Main text
  • 1471-2466-12-15.pdf
View BVdb publication page



A non-BRICHOS surfactant protein c mutation disrupts epithelial cell function and intercellular signaling.

Bmc Cell Biology
Woischnik, Markus M; Sparr, Christiane C; Kern, Sunčana S; Thurm, Tobias T; Hector, Andreas A; Hartl, Dominik D; Liebisch, Gerhard G; Mulugeta, Surafel S; Beers, Michael F MF; Schmitz, Gerd G; Griese, Matthias M
Publication Date: 2010-11-20

Variant appearance in text: NSF: S450D
PubMed Link: 21092132
Variant Present in the following documents:
  • Main text
  • 1471-2121-11-88.pdf
View BVdb publication page