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SCN1A c.4016C>T ;(p.A1339V)
Variant ID: 2-166859250-G-A
NM_001165963.1(
SCN1A
):c.4016C>T;(p.A1339V)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: A1339V
PubMed Link:
33712547
Variant Present in the following documents:
Main text
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: 4016C>T; Ala1339Val
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: A1339V
PubMed Link:
28150151
Variant Present in the following documents:
Main text
13238_2017_Article_372.pdf
View BVdb publication page