TG c.3759C>A ;(p.S1253=)

Variant ID: 8-133919057-C-A

NM_003235.4(TG):c.3759C>A;(p.S1253=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: TG: 3759C>A
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Mutant LRP6 Impairs Endothelial Cell Functions Associated with Familial Normolipidemic Coronary Artery Disease.

International Journal Of Molecular Sciences
Guo, Jian J; Li, Yang Y; Ren, Yi-Hong YH; Sun, Zhijun Z; Dong, Jie J; Yan, Han H; Xu, Yujun Y; Wang, Dao Wen DW; Zheng, Gu-Yan GY; Du, Jie J; Tian, Xiao-Li XL
Publication Date: 2016-07-22

Variant appearance in text: TG: 3759C>A
PubMed Link: 27455246
Variant Present in the following documents:
  • ijms-17-01173-s001.pdf
View BVdb publication page



Functional analysis LRP6 novel mutations in patients with coronary artery disease.

Plos One
Xu, Yujun Y; Gong, Wei W; Peng, Jia J; Wang, Haoran H; Huang, Jin J; Ding, Hu H; Wang, Dao Wen DW
Publication Date: 2014

Variant appearance in text: TG: 3759C>A
PubMed Link: 24427284
Variant Present in the following documents:
  • Main text
View BVdb publication page