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SCN5A c.2447T>A ;(p.F816Y)
Variant ID: 3-38627522-A-T
NM_000335.4(
SCN5A
):c.2447T>A;(p.F816Y)
This variant was identified in 4 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: F816Y
PubMed Link:
32431610
Variant Present in the following documents:
Main text
Table_1.xlsx, sheet 1
View BVdb publication page
Structure of the Cardiac Sodium Channel.
Cell
Jiang, Daohua D; Shi, Hui H; Tonggu, Lige L; Gamal El-Din, Tamer M TM; Lenaeus, Michael J MJ; Zhao, Yan Y; Yoshioka, Craig C; Zheng, Ning N; Catterall, William A WA
Publication Date: 2020-01-09
Variant appearance in text: LQT3: F816Y
PubMed Link:
31866066
Variant Present in the following documents:
Main text
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: LQT3: F816Y
PubMed Link:
29806494
Variant Present in the following documents:
Main text
View BVdb publication page
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.
Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06
Variant appearance in text: LQT3: F816Y
PubMed Link:
28150151
Variant Present in the following documents:
Main text
13238_2017_Article_372.pdf
View BVdb publication page