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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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