MYBPC3 c.652A>G ;(p.K218E)

Variant ID: 11-47371327-T-C

NM_000256.3(MYBPC3):c.652A>G;(p.K218E)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

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: K218E
PubMed Link: 30270174
Variant Present in the following documents:
  • Main text
View BVdb publication page