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SCN1A c.4869G>C ;(p.E1623D)
Variant ID: 2-166848916-C-G
NM_001165963.1(
SCN1A
):c.4869G>C;(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