SCN5A c.1378T>G ;(p.S460A)

Variant ID: 3-38646360-A-C

NM_000335.4(SCN5A):c.1378T>G;(p.S460A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A Heart Failure-Associated SCN5A Splice Variant Leads to a Reduction in Sodium Current Through Coupled-Gating With the Wild-Type Channel.

Frontiers In Physiology
Zheng, Yang Y; Wan, Xiaoping X; Yang, Dandan D; Ramirez-Navarro, Angelina A; Liu, Haiyan H; Fu, Ji-Dong JD; Deschênes, Isabelle I
Publication Date: 2021

Variant appearance in text: SCN5A: S460A
PubMed Link: 33828490
Variant Present in the following documents:
  • Main text
  • fphys-12-661429.pdf
View BVdb publication page



Voltage-gated sodium channels assemble and gate as dimers.

Nature Communications
Clatot, Jérôme J; Hoshi, Malcolm M; Wan, Xiaoping X; Liu, Haiyan H; Jain, Ankur A; Shinlapawittayatorn, Krekwit K; Marionneau, Céline C; Ficker, Eckhard E; Ha, Taekjip T; Deschênes, Isabelle I
Publication Date: 2017-12-12

Variant appearance in text: SCN5A: S460A
PubMed Link: 29233994
Variant Present in the following documents:
  • Main text
  • 41467_2017_Article_2262.pdf
  • 41467_2017_2262_MOESM2_ESM.pdf
  • 41467_2017_2262_MOESM1_ESM.pdf
View BVdb publication page