SCN1A c.4869G>T ;(p.E1623D)

Variant ID: 2-166848916-C-A

NM_001165963.1(SCN1A):c.4869G>T;(p.E1623D)

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:

Critical Role of E1623 Residue in S3-S4 Loop of Nav1.1 Channel and Correlation Between Nature of Substitution and Functional Alteration.

Frontiers In Molecular Neuroscience
Su, Tao T; Chen, Meng-Long ML; Liu, Li-Hong LH; Meng, Hen H; Tang, Bin B; Liu, Xiao-Rong XR; Liao, Wei-Ping WP
Publication Date: 2021

Variant appearance in text: SCN1A: E1623D
PubMed Link: 35082603
Variant Present in the following documents:
  • Main text
  • fnmol-14-797628.pdf
View BVdb publication page