SCN5A c.1408A>G ;(p.N470D)

Variant ID: 3-38646330-T-C

NM_000335.4(SCN5A):c.1408A>G;(p.N470D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.

Frontiers In Pharmacology
Zhang, Yihong Y; Grimwood, Amy L AL; Hancox, Jules C JC; Harmer, Stephen C SC; Dempsey, Christopher E CE
Publication Date: 2022

Variant appearance in text: SCN5A: N470D
PubMed Link: 36339618
Variant Present in the following documents:
  • fphar-13-1010119.pdf
View BVdb publication page



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: N470D
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
View BVdb publication page