SCN1A c.1258_1260delinsTGG ;(p.A420W)

Variant ID: 2-166903397-AGC-CCA

NM_001165963.1(SCN1A):c.1258_1260delinsTGG;(p.A420W)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Pharmacology of the Nav1.1 domain IV voltage sensor reveals coupling between inactivation gating processes.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Osteen, Jeremiah D JD; Sampson, Kevin K; Iyer, Vivek V; Julius, David D; Bosmans, Frank F
Publication Date: 2017-06-27

Variant appearance in text: Nav1.1: A420W
PubMed Link: 28607094
Variant Present in the following documents:
  • Main text
View BVdb publication page