SCN5A c.1225C>G ;(p.L409V)

Variant ID: 3-38647555-G-C

NM_000335.4(SCN5A):c.1225C>G;(p.L409V)

This variant was identified in 2 publications

View GRCh38 version.




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: L409V
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • Table_1.xlsx, sheet 1
  • fphar-11-00550.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: L409V
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_372.pdf
View BVdb publication page