SCN1A c.680T>C ;(p.I227T)

Variant ID: 2-166909376-A-G

NM_001165963.1(SCN1A):c.680T>C;(p.I227T)

This variant was identified in 3 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: Nav1.1: I227T
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
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: I227T
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



Dynamic changes of depolarizing GABA in a computational model of epileptogenic brain: Insight for Dravet syndrome.

Experimental Neurology
Kurbatova, P P; Wendling, F F; Kaminska, A A; Rosati, A A; Nabbout, R R; Guerrini, R R; Dulac, O O; Pons, G G; Cornu, C C; Nony, P P; , ; Chiron, C C; Benquet, P P
Publication Date: 2016-09

Variant appearance in text: SCN1A: 680T>C
PubMed Link: 27246997
Variant Present in the following documents:
  • Main text
View BVdb publication page