F2 c.539A>G ;(p.E180G)

Variant ID: 11-46745048-A-G

NM_000506.3(F2):c.539A>G;(p.E180G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The muscle-relaxing C-terminal peptide from troponin I populates a nascent helix, facilitating binding to tropomyosin with a potent therapeutic effect.

The Journal Of Biological Chemistry
Hornos, Felipe F; Feng, Han-Zhong HZ; Rizzuti, Bruno B; Palomino-Schätzlein, Martina M; Wieczorek, David D; Neira, José L JL; Jin, J-P JP
Publication Date: 2021

Variant appearance in text: F2: E180G
PubMed Link: 33814345
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Modifications of Sarcoplasmic Reticulum Function Prevent Progression of Sarcomere-Linked Hypertrophic Cardiomyopathy Despite a Persistent Increase in Myofilament Calcium Response.

Frontiers In Physiology
Chowdhury, Shamim A K SAK; Warren, Chad M CM; Simon, Jillian N JN; Ryba, David M DM; Batra, Ashley A; Varga, Peter P; Kranias, Evangelia G EG; Tardiff, Jil C JC; Solaro, R John RJ; Wolska, Beata M BM
Publication Date: 2020

Variant appearance in text: F2: E180G
PubMed Link: 32210830
Variant Present in the following documents:
  • Main text
  • fphys-11-00107.pdf
View BVdb publication page