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GRIN2A c.2050A>G ;(p.T684A)
Variant ID: 16-9916239-T-C
NM_001134407.1(
GRIN2A
):c.2050A>G;(p.T684A)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: T684A
PubMed Link:
34301626
Variant Present in the following documents:
supp_gr.275528.121_Supplemental_Dataset_2.xlsx, sheet 1
View BVdb publication page
Identification of pathogenic missense mutations using protein stability predictors.
Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21
Variant appearance in text: GRIN2A: T684A
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
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: GRIN2A: 2050A>G; Thr684Ala
PubMed Link:
28864458
Variant Present in the following documents:
supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1
View BVdb publication page
Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.
Molecular & Cellular Proteomics : Mcp
Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N
Publication Date: 2016-11
Variant appearance in text: GRIN2A: 2050A>G
PubMed Link:
27697855
Variant Present in the following documents:
10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5
View BVdb publication page