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GRIN2A c.1770A>T ;(p.K590N)
Variant ID: 16-9927969-T-A
NM_001134407.1(
GRIN2A
):c.1770A>T;(p.K590N)
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:
Calcium and activity-dependent signaling in the developing cerebral cortex.
Development (Cambridge, England)
Arjun McKinney, Arpana A; Petrova, Ralitsa R; Panagiotakos, Georgia G
Publication Date: 2022-09-01
Variant appearance in text: GluN2A: K590N
PubMed Link:
36102617
Variant Present in the following documents:
develop-149-198853-s1.pdf
View BVdb publication page
Rare loss of function mutations in N-methyl-D-aspartate glutamate receptors and their contributions to schizophrenia susceptibility.
Translational Psychiatry
Yu, Yanjie Y; Lin, Yingni Y; Takasaki, Yuto Y; Wang, Chenyao C; Kimura, Hiroki H; Xing, Jingrui J; Ishizuka, Kanako K; Toyama, Miho M; Kushima, Itaru I; Mori, Daisuke D; Arioka, Yuko Y; Uno, Yota Y; Shiino, Tomoko T; Nakamura, Yukako Y; Okada, Takashi T; Morikawa, Mako M; Ikeda, Masashi M; Iwata, Nakao N; Okahisa, Yuko Y; Takaki, Manabu M; Sakamoto, Shinji S; Someya, Toshiyuki T; Egawa, Jun J; Usami, Masahide M; Kodaira, Masaki M; Yoshimi, Akira A; Oya-Ito, Tomoko T; Aleksic, Branko B; Ohno, Kinji K; Ozaki, Norio N
Publication Date: 2018-01-10
Variant appearance in text: GRIN2A: K590N
PubMed Link:
29317596
Variant Present in the following documents:
Main text
View BVdb publication page
Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.
Plos Genetics
Jiang, Liyan L; Huang, Jiaqi J; Higgs, Brandon W BW; Hu, Zhibin Z; Xiao, Zhan Z; Yao, Xin X; Conley, Sarah S; Zhong, Haihong H; Liu, Zheng Z; Brohawn, Philip P; Shen, Dong D; Wu, Song S; Ge, Xiaoxiao X; Jiang, Yue Y; Zhao, Yizhuo Y; Lou, Yuqing Y; Morehouse, Chris C; Zhu, Wei W; Sebastian, Yinong Y; Czapiga, Meggan M; Oganesyan, Vaheh V; Fu, Haihua H; Niu, Yanjie Y; Zhang, Wei W; Streicher, Katie K; Tice, David D; Zhao, Heng H; Zhu, Meng M; Xu, Lin L; Herbst, Ronald R; Su, Xinying X; Gu, Yi Y; Li, Shyoung S; Huang, Lihua L; Gu, Jianren J; Han, Baohui B; Jallal, Bahija B; Shen, Hongbing H; Yao, Yihong Y
Publication Date: 2016-04
Variant appearance in text: GRIN2A: K590N
PubMed Link:
27093186
Variant Present in the following documents:
pgen.1005895.s019.xlsx, sheet 1
View BVdb publication page