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SCN1A c.825T>G ;(p.N275K)
Variant ID: 2-166908368-A-C
NM_001165963.1(
SCN1A
):c.825T>G;(p.N275K)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases.
Frontiers In Molecular Neuroscience
Chen, Chunhong C; Fang, Fang F; Wang, Xu X; Lv, Junlan J; Wang, Xiaohui X; Jin, Hong H
Publication Date: 2022
Variant appearance in text: SMEI: 825T>G
PubMed Link:
35571373
Variant Present in the following documents:
Main text
fnmol-15-821012.pdf
View BVdb publication page
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Frontiers In Pharmacology
Menezes, Luis Felipe Santos LFS; Sabiá Júnior, Elias Ferreira EF; Tibery, Diogo Vieira DV; Carneiro, Lilian Dos Anjos LDA; Schwartz, Elisabeth Ferroni EF
Publication Date: 2020
Variant appearance in text: SCN1A: N275K
PubMed Link:
33013363
Variant Present in the following documents:
Main text
fphar-11-01276.pdf
View BVdb publication page