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GRIN2A c.1001T>A ;(p.L334*)
Variant ID: 16-10031822-A-T
NM_001134407.1(
GRIN2A
):c.1001T>A;(p.L334*)
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:
Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.
Bmc Genetics
Kessi, Miriam M; Peng, Jing J; Yang, Lifen L; Xiong, Juan J; Duan, Haolin H; Pang, Nan N; Yin, Fei F
Publication Date: 2018-07-06
Variant appearance in text: GRIN2A: 1001T>A
PubMed Link:
29976148
Variant Present in the following documents:
12863_2018_Article_628.pdf
View BVdb publication page
Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.
Neuroscience Bulletin
Xu, Xing-Xing XX; Luo, Jian-Hong JH
Publication Date: 2018-06
Variant appearance in text: GRIN2A: 1001T>A
PubMed Link:
29124671
Variant Present in the following documents:
Main text
View BVdb publication page
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Neuroscience Bulletin
Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP
Publication Date: 2017-08
Variant appearance in text: GRIN2A: L334X
PubMed Link:
28488083
Variant Present in the following documents:
Main text
View BVdb publication page