SCN1A c.568T>C ;(p.W190R)

Variant ID: 2-166911182-A-G

NM_001165963.1(SCN1A):c.568T>C;(p.W190R)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: SCN1A: 568T>C; Trp190Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: W190R
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: W190R
PubMed Link: 35878056
Variant Present in the following documents:
  • pnas.202209164.pdf
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: SCN1A: 568T>C; Trp190Arg
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Frontiers In Neurology
Gonsales, Marina C MC; Montenegro, Maria Augusta MA; Preto, Paula P; Guerreiro, Marilisa M MM; Coan, Ana Carolina AC; Quast, Monica Paiva MP; Carvalho, Benilton S BS; Lopes-Cendes, Iscia I
Publication Date: 2019

Variant appearance in text: SCN1A: 568T>C; W190R
PubMed Link: 31001185
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: SCN1A: 568T>C; Trp190Arg
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype.

Epilepsia Open
Ouss, Lisa L; Leunen, Dorothee D; Laschet, Jacques J; Chemaly, Nicole N; Barcia, Giulia G; Losito, Emma M EM; Aouidad, Aveline A; Barrault, Zoe Z; Desguerre, Isabelle I; Breuillard, Delphine D; Nabbout, Rima R
Publication Date: 2019-03

Variant appearance in text: SCN1A: 568T>C; Trp190Arg
PubMed Link: 30868114
Variant Present in the following documents:
  • Main text
  • EPI4-4-40.pdf
View BVdb publication page



Discovering Genetic Factors for psoriasis through exhaustively searching for significant second order SNP-SNP interactions.

Scientific Reports
Lee, Kwan-Yeung KY; Leung, Kwong-Sak KS; Tang, Nelson L S NLS; Wong, Man-Hon MH
Publication Date: 2018-10-12

Variant appearance in text: rs121918773
PubMed Link: 30315195
Variant Present in the following documents:
  • 41598_2018_Article_33493.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: 568T>C; Trp190Arg
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: W190R
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
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: W190R; rs121918773
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: W190R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page