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SCN5A c.1582_1583delinsGC ;(p.S528A)
Variant ID: 3-38645510-CT-GC
NM_000335.4(
SCN5A
):c.1582_1583delinsGC;(p.S528A)
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:
Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.
International Journal Of Molecular Sciences
Daimi, Houria H; Lozano-Velasco, Estefanía E; Aranega, Amelia A; Franco, Diego D
Publication Date: 2022-01-26
Variant appearance in text: SCN5A: S528A
PubMed Link:
35163304
Variant Present in the following documents:
Main text
ijms-23-01381.pdf
View BVdb publication page
Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.
International Journal Of Molecular Sciences
Daimi, Houria H; Lozano-Velasco, Estefanía E; Aranega, Amelia A; Franco, Diego D
Publication Date: 2022-01-26
Variant appearance in text: SCN5A: S528A
PubMed Link:
35163304
Variant Present in the following documents:
Main text
ijms-23-01381.pdf
View BVdb publication page
Chemical modification of proteins by insertion of synthetic peptides using tandem protein trans-splicing.
Nature Communications
Khoo, K K KK; Galleano, I I; Gasparri, F F; Wieneke, R R; Harms, H H; Poulsen, M H MH; Chua, H C HC; Wulf, M M; Tampé, R R; Pless, S A SA
Publication Date: 2020-05-08
Variant appearance in text: Nav1.5: S528A
PubMed Link:
32385250
Variant Present in the following documents:
41467_2020_16208_MOESM1_ESM.pdf
View BVdb publication page
Predicting changes to INa from missense mutations in human SCN5A.
Scientific Reports
Clerx, Michael M; Heijman, Jordi J; Collins, Pieter P; Volders, Paul G A PGA
Publication Date: 2018-08-24
Variant appearance in text: SCN5A: S528A
PubMed Link:
30143662
Variant Present in the following documents:
41598_2018_30577_MOESM1_ESM.pdf
View BVdb publication page
Dysfunctional Nav1.5 channels due to SCN5A mutations.
Experimental Biology And Medicine (Maywood, N.J.)
Han, Dan D; Tan, Hui H; Sun, Chaofeng C; Li, Guoliang G
Publication Date: 2018-06
Variant appearance in text: SCN5A: S528A
PubMed Link:
29806494
Variant Present in the following documents:
Main text
View BVdb publication page
A mutation causing Brugada syndrome identifies a mechanism for altered autonomic and oxidant regulation of cardiac sodium currents.
Circulation. Cardiovascular Genetics
Aiba, Takeshi T; Farinelli, Federica F; Kostecki, Geran G; Hesketh, Geoffrey G GG; Edwards, David D; Biswas, Subrata S; Tung, Leslie L; Tomaselli, Gordon F GF
Publication Date: 2014-06
Variant appearance in text: SCN5A: S528A
PubMed Link:
24795344
Variant Present in the following documents:
Main text
View BVdb publication page