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SCN5A c.2942G>T ;(p.C981F)
Variant ID: 3-38622708-C-A
NM_000335.4(
SCN5A
):c.2942G>T;(p.C981F)
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:
Palmitoylation: A Fatty Regulator of Myocardial Electrophysiology.
Frontiers In Physiology
Essandoh, Kobina K; Philippe, Julie M JM; Jenkins, Paul M PM; Brody, Matthew J MJ
Publication Date: 2020
Variant appearance in text: SCN5A: C981F
PubMed Link:
32140110
Variant Present in the following documents:
Main text
fphys-11-00108.pdf
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: C981F
PubMed Link:
28150151
Variant Present in the following documents:
Main text
13238_2017_Article_372.pdf
View BVdb publication page
Cardiac sodium channel palmitoylation regulates channel availability and myocyte excitability with implications for arrhythmia generation.
Nature Communications
Pei, Zifan Z; Xiao, Yucheng Y; Meng, Jingwei J; Hudmon, Andy A; Cummins, Theodore R TR
Publication Date: 2016-06-23
Variant appearance in text: Nav1.5: C981F
PubMed Link:
27337590
Variant Present in the following documents:
Main text
ncomms12035.pdf
View BVdb publication page