SCN1A c.5020G>C ;(p.G1674R)

Variant ID: 2-166848765-C-G

NM_001165963.1(SCN1A):c.5020G>C;(p.G1674R)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology
Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S
Publication Date: 2022-01-17

Variant appearance in text: SCN1A: G1674R
PubMed Link: 35037686
Variant Present in the following documents:
  • awac006_Supplementary_Data.pdf
View BVdb publication page



Comparative structural analysis of human Nav1.1 and Nav1.5 reveals mutational hotspots for sodium channelopathies.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Pan, Xiaojing X; Li, Zhangqiang Z; Jin, Xueqin X; Zhao, Yanyu Y; Huang, Gaoxingyu G; Huang, Xiaoshuang X; Shen, Zilin Z; Cao, Yong Y; Dong, Mengqiu M; Lei, Jianlin J; Yan, Nieng N
Publication Date: 2021-03-16

Variant appearance in text: SCN1A: G1674R
PubMed Link: 33712547
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: SMEI: G1674R
PubMed Link: 33651714
Variant Present in the following documents:
  • Main text
View BVdb publication page



Trafficking mechanisms underlying Nav channel subcellular localization in neurons.

Channels (Austin, Tex.)
Solé, Laura L; Tamkun, Michael M MM
Publication Date: 2020-12

Variant appearance in text: Nav1.1: G1674R
PubMed Link: 31841065
Variant Present in the following documents:
  • kchl-14-01-1700082.pdf
View BVdb publication page



Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research
Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S
Publication Date: 2017-10

Variant appearance in text: SCN1A: 5020G>C; Gly1674Arg
PubMed Link: 28864458
Variant Present in the following documents:
  • supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1
View BVdb publication page



Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06

Variant appearance in text: Nav1.1: G1674R
PubMed Link: 28150151
Variant Present in the following documents:
  • 13238_2017_Article_372.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: SMEI: G1674R; rs121918792
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: SCN1A: G1674R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

Journal Of Medical Genetics
Walsh, Roddy R; Peters, Nicholas S NS; Cook, Stuart A SA; Ware, James S JS
Publication Date: 2014-01

Variant appearance in text: SCN1A: G1674R
PubMed Link: 24136861
Variant Present in the following documents:
  • Main text
  • jmedgenet-2013-101917.pdf
View BVdb publication page



Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.

The Journal Of Biological Chemistry
Thompson, Christopher H CH; Porter, J Christopher JC; Kahlig, Kristopher M KM; Daniels, Melissa A MA; George, Alfred L AL
Publication Date: 2012-12-07

Variant appearance in text: SMEI: G1674R
PubMed Link: 23086956
Variant Present in the following documents:
  • Main text
View BVdb publication page



A plethora of SCN1A mutations: what can they tell us?

Epilepsy Currents
Wallace, Robyn R
Publication Date: 2005

Variant appearance in text: SCN1A: G1674R
PubMed Link: 16059449
Variant Present in the following documents:
  • Main text
View BVdb publication page



Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Rhodes, Thomas H TH; Lossin, Christoph C; Vanoye, Carlos G CG; Wang, Dao W DW; George, Alfred L AL
Publication Date: 2004-07-27

Variant appearance in text: SCN1A: G1674R
PubMed Link: 15263074
Variant Present in the following documents:
  • Main text
View BVdb publication page