SCN1A c.4181C>T ;(p.T1394I)

Variant ID: 2-166859085-G-A

NM_001165963.1(SCN1A):c.4181C>T;(p.T1394I)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology
Brunklaus, Andreas A; Feng, Tony T; BrĂ¼nger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S
Publication Date: 2022-01-17

Variant appearance in text: SCN1A: T1394I
PubMed Link: 35037686
Variant Present in the following documents:
  • awac006_Supplementary_Data.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: Nav1.1: T1394I
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_372.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: SCN1A: T1394I
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

Journal Of Medical Genetics
Walsh, Roddy R; Peters, Nicholas S NS; Cook, Stuart A SA; Ware, James S JS
Publication Date: 2014-01

Variant appearance in text: SCN1A: T1394I
PubMed Link: 24136861
Variant Present in the following documents:
  • jmedgenet-2013-101917-s1.pdf
View BVdb publication page