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GRIN2A c.2189A>T ;(p.Y730F)
Variant ID: 16-9892301-T-A
NM_001134407.1(
GRIN2A
):c.2189A>T;(p.Y730F)
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:
Clinical and genomic features of Chinese lung cancer patients with germline mutations.
Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10
Variant appearance in text: GRIN2A: 2189A>T
PubMed Link:
35273153
Variant Present in the following documents:
41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page
Three-dimensional missense tolerance ratio analysis.
Genome Research
Perszyk, Riley E RE; Kristensen, Anders S AS; Lyuboslavsky, Polina P; Traynelis, Stephen F SF
Publication Date: 2021-08
Variant appearance in text: GRIN2A: Y730F
PubMed Link:
34301626
Variant Present in the following documents:
supp_gr.275528.121_Supplemental_Dataset_2.xlsx, sheet 1
View BVdb publication page
Structural insights into competitive antagonism in NMDA receptors.
Neuron
Jespersen, Annie A; Tajima, Nami N; Fernandez-Cuervo, Gabriela G; Garnier-Amblard, Ethel C EC; Furukawa, Hiro H
Publication Date: 2014-01-22
Variant appearance in text: GluN2A: Tyr730Phe
PubMed Link:
24462099
Variant Present in the following documents:
Main text
View BVdb publication page