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SCN1A c.735G>C ;(p.K245N)
Variant ID: 2-166908458-C-G
NM_001165963.1(
SCN1A
):c.735G>C;(p.K245N)
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:
Neddylation stabilizes Nav1.1 to maintain interneuron excitability and prevent seizures in murine epilepsy models.
The Journal Of Clinical Investigation
Chen, Wenbing W; Luo, Bin B; Gao, Nannan N; Li, Haiwen H; Wang, Hongsheng H; Li, Lei L; Cui, Wanpeng W; Zhang, Lei L; Sun, Dong D; Liu, Fang F; Dong, Zhaoqi Z; Ren, Xiao X; Zhang, Hongsheng H; Su, Huabo H; Xiong, Wen-Cheng WC; Mei, Lin L
Publication Date: 2021-04-15
Variant appearance in text: SCN1A: K245N
PubMed Link:
33651714
Variant Present in the following documents:
Main text
View BVdb publication page