MYBPC3 c.646_647delinsCG ;(p.A216R)

Variant ID: 11-47371332-GC-CG

NM_000256.3(MYBPC3):c.646_647delinsCG;(p.A216R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A high-throughput fluorescence lifetime-based assay to detect binding of myosin-binding protein C to F-actin.

The Journal Of General Physiology
Bunch, Thomas A TA; Lepak, Victoria C VC; Bortz, Kellan M KM; Colson, Brett A BA
Publication Date: 2021-03-01

Variant appearance in text: cMyBP-C: A216R
PubMed Link: 33600558
Variant Present in the following documents:
  • Main text
  • JGP_202012707.pdf
View BVdb publication page



N-Terminal Domains of Cardiac Myosin Binding Protein C Cooperatively Activate the Thin Filament.

Structure (London, England : 1993)
Risi, Cristina C; Belknap, Betty B; Forgacs-Lonart, Eva E; Harris, Samantha P SP; Schröder, Gunnar F GF; White, Howard D HD; Galkin, Vitold E VE
Publication Date: 2018-12-04

Variant appearance in text: cMyBP-C: A216R
PubMed Link: 30270174
Variant Present in the following documents:
  • Main text
View BVdb publication page