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KCNH2 c.274_276delinsTGG ;(p.R92W)
Variant ID: 7-150671830-GCG-CCA
NM_000238.3(
KCNH2
):c.274_276delinsTGG;(p.R92W)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Gene therapy for inherited arrhythmias.
Cardiovascular Research
Bezzerides, Vassilios J VJ; Prondzynski, Maksymilian M; Carrier, Lucie L; Pu, William T WT
Publication Date: 2020-07-15
Variant appearance in text: KCNH2: R92W
PubMed Link:
32321160
Variant Present in the following documents:
Main text
View BVdb publication page
Inherited cardiac diseases, pluripotent stem cells, and genome editing combined-the past, present, and future.
Stem Cells (Dayton, Ohio)
van den Brink, Lettine L; Grandela, Catarina C; Mummery, Christine L CL; Davis, Richard P RP
Publication Date: 2020-02
Variant appearance in text: LQT2: R92W
PubMed Link:
31664757
Variant Present in the following documents:
STEM-38-174-s001.pdf
View BVdb publication page
A Systematically Assembled Signature of Genes to be Deep-Sequenced for Their Associations with the Blood Pressure Response to Exercise.
Genes
Pescatello, Linda S LS; Parducci, Paul P; Livingston, Jill J; Taylor, Beth A BA
Publication Date: 2019-04-11
Variant appearance in text: KCNH2: R92W
PubMed Link:
30979034
Variant Present in the following documents:
genes-10-00295.pdf
View BVdb publication page
Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy Phenotype.
Frontiers In Physiology
Marques, Mayra de A MA; de Oliveira, Guilherme A P GA
Publication Date: 2016
Variant appearance in text: HERG: R92W
PubMed Link:
27721798
Variant Present in the following documents:
Main text
fphys-07-00429.pdf
View BVdb publication page
A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation.
The Journal Of Biological Chemistry
Parvatiyar, Michelle S MS; Landstrom, Andrew P AP; Figueiredo-Freitas, Cicero C; Potter, James D JD; Ackerman, Michael J MJ; Pinto, Jose Renato JR
Publication Date: 2012-09-14
Variant appearance in text: KCNH2: R92W
PubMed Link:
22815480
Variant Present in the following documents:
Main text
View BVdb publication page