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SCN1A c.5138G>A ;(p.S1713N)
Variant ID: 2-166848647-C-T
NM_001165963.1(
SCN1A
):c.5138G>A;(p.S1713N)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.
Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017
Variant appearance in text: rs121918816
PubMed Link:
29263839
Variant Present in the following documents:
41525_2017_32_MOESM8_ESM.xlsx, sheet 7
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: 5138G>A; Ser1713Asn
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: S1713N
PubMed Link:
28150151
Variant Present in the following documents:
Main text
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: S1713N; rs121918816
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: S1713N
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page
Altered sleep regulation in a mouse model of SCN1A-derived genetic epilepsy with febrile seizures plus (GEFS+).
Epilepsia
Papale, Ligia A LA; Makinson, Christopher D CD; Christopher Ehlen, J J; Tufik, Sergio S; Decker, Michael J MJ; Paul, Ketema N KN; Escayg, Andrew A
Publication Date: 2013-04
Variant appearance in text: SCN1A: S1713N
PubMed Link:
23311867
Variant Present in the following documents:
Main text
View BVdb publication page