LRP6 c.388A>T ;(p.K130*)

Variant ID: 12-12397257-T-A

NM_002336.2(LRP6):c.388A>T;(p.K130*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: LRP6: 388A>T
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: LRP6: 388A>T
PubMed Link: 24427284
Variant Present in the following documents:
  • Main text
View BVdb publication page