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.




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
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