SCN5A c.2599G>C ;(p.E867Q)

Variant ID: 3-38627370-C-G

NM_000335.4(SCN5A):c.2599G>C;(p.E867Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: E867Q
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.

Plos One
Tarradas, Anna A; Selga, Elisabet E; Beltran-Alvarez, Pedro P; Pérez-Serra, Alexandra A; Riuró, Helena H; Picó, Ferran F; Iglesias, Anna A; Campuzano, Oscar O; Castro-Urda, Víctor V; Fernández-Lozano, Ignacio I; Pérez, Guillermo J GJ; Scornik, Fabiana S FS; Brugada, Ramon R
Publication Date: 2013

Variant appearance in text: SCN5A: E867Q
PubMed Link: 23308164
Variant Present in the following documents:
View BVdb publication page