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SCN5A c.4474A>G ;(p.K1492E)
Variant ID: 3-38597212-T-C
NM_000335.4(
SCN5A
):c.4474A>G;(p.K1492E)
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:
E1784K, the most common Brugada syndrome and long-QT syndrome type 3 mutant, disrupts sodium channel inactivation through two separate mechanisms.
The Journal Of General Physiology
Peters, Colin H CH; Watkins, Abeline R AR; Poirier, Olivia L OL; Ruben, Peter C PC
Publication Date: 2020-09-07
Variant appearance in text: Nav1.5: K1492E
PubMed Link:
32569350
Variant Present in the following documents:
Main text
JGP_202012595.pdf
View BVdb publication page
An interaction between the III-IV linker and CTD in NaV1.5 confers regulation of inactivation by CaM and FHF.
The Journal Of General Physiology
Gade, Aravind R AR; Marx, Steven O SO; Pitt, Geoffrey S GS
Publication Date: 2020-02-03
Variant appearance in text: LQT3: K1492E
PubMed Link:
31865383
Variant Present in the following documents:
Main text
JGP_201912434.pdf
View BVdb publication page
The voltage-gated sodium channel EF-hands form an interaction with the III-IV linker that is disturbed by disease-causing mutations.
Scientific Reports
Gardill, Bernd R BR; Rivera-Acevedo, Ricardo E RE; Tung, Ching-Chieh CC; Okon, Mark M; McIntosh, Lawrence P LP; Van Petegem, Filip F
Publication Date: 2018-03-14
Variant appearance in text: Nav1.5: K1492E
PubMed Link:
29540853
Variant Present in the following documents:
41598_2018_22713_MOESM1_ESM.pdf
View BVdb publication page