SCN1A c.304_306delinsCAA ;(p.F102Q)

Variant ID: 2-166915157-GAA-TTG

NM_001165963.1(SCN1A):c.304_306delinsCAA;(p.F102Q)

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:

Voltage-sensor transitions of the inward-rectifying K+ channel KAT1 indicate a latching mechanism biased by hydration within the voltage sensor.

Plant Physiology
Lefoulon, Cécile C; Karnik, Rucha R; Honsbein, Annegret A; Gutla, Paul Vijay PV; Grefen, Christopher C; Riedelsberger, Janin J; Poblete, Tomás T; Dreyer, Ingo I; Gonzalez, Wendy W; Blatt, Michael R MR
Publication Date: 2014-10

Variant appearance in text: Nav1.1: F102Q
PubMed Link: 25185120
Variant Present in the following documents:
  • Main text
View BVdb publication page