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.




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