SCN5A c.503A>T ;(p.Y168F)

Variant ID: 3-38662442-T-A

NM_000335.4(SCN5A):c.503A>T;(p.Y168F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channels.

Frontiers In Physiology
Amarouch, Mohamed-Yassine MY; Abriel, Hugues H
Publication Date: 2015

Variant appearance in text: SCN5A: Y168F
PubMed Link: 25741286
Variant Present in the following documents:
  • Main text
  • fphys-06-00045.pdf
View BVdb publication page



Functional interaction between S1 and S4 segments in voltage-gated sodium channels revealed by human channelopathies.

Channels (Austin, Tex.)
Amarouch, Mohamed-Yassine MY; Kasimova, Marina A MA; Tarek, Mounir M; Abriel, Hugues H
Publication Date: 2014

Variant appearance in text: Nav1.5: Y168F
PubMed Link: 25483584
Variant Present in the following documents:
  • Main text
  • kchl-08-05-958922.pdf
View BVdb publication page