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SCN1A c.573C>A ;(p.N191K)
Variant ID: 2-166911177-G-T
NM_001165963.1(
SCN1A
):c.573C>A;(p.N191K)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-Generation Sequencing Technique.
Balkan Medical Journal
Atlı, Engin E; Gürkan, Hakan H; Güldiken, Babürhan B; Eker, Damla D; Yalçıntepe, Sinem S; Demir, Selma S; Atlı, Emine İkbal Eİ
Publication Date: 2022-11-14
Variant appearance in text: SCN1A: N191K
PubMed Link:
36374051
Variant Present in the following documents:
Main text
BMJ-40-13.pdf
View BVdb publication page
Unwinding and spiral sliding of S4 and domain rotation of VSD during the electromechanical coupling in Nav1.7.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Huang, Gaoxingyu G; Wu, Qiurong Q; Li, Zhangqiang Z; Jin, Xueqin X; Huang, Xiaoshuang X; Wu, Tong T; Pan, Xiaojing X; Yan, Nieng N
Publication Date: 2022-08-16
Variant appearance in text: Nav1.1: N191K
PubMed Link:
35878056
Variant Present in the following documents:
pnas.202209164.pdf
View BVdb publication page
Roles for Countercharge in the Voltage Sensor Domain of Ion Channels.
Frontiers In Pharmacology
Groome, James R JR; Bayless-Edwards, Landon L
Publication Date: 2020
Variant appearance in text: SCN1A: N191K
PubMed Link:
32180723
Variant Present in the following documents:
Main text
fphar-11-00160.pdf
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: N191K
PubMed Link:
28150151
Variant Present in the following documents:
Main text
View BVdb publication page
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16
Variant appearance in text: SCN1A: N191K
PubMed Link:
27527004
Variant Present in the following documents:
srep31321-s4.xls, sheet 1
View BVdb publication page