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SCN5A c.1766G>A ;(p.G589D)
Variant ID: 3-38645327-C-T
NM_000335.4(
SCN5A
):c.1766G>A;(p.G589D)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020
Variant appearance in text: SCN5A: G589D
PubMed Link:
32431610
Variant Present in the following documents:
Main text
View BVdb publication page
Interpreting genetic effects through models of cardiac electromechanics.
American Journal Of Physiology. Heart And Circulatory Physiology
Niederer, S A SA; Land, S S; Omholt, S W SW; Smith, N P NP
Publication Date: 2012-12-01
Variant appearance in text: SCN5A: G589D
PubMed Link:
23042948
Variant Present in the following documents:
Main text
View BVdb publication page
Using computational modeling to predict arrhythmogenesis and antiarrhythmic therapy.
Drug Discovery Today. Disease Models
Moreno, Jonathan D JD; Clancy, Colleen E CE
Publication Date: 2009
Variant appearance in text: LQT3: G589D
PubMed Link:
20652086
Variant Present in the following documents:
Main text
View BVdb publication page