LRP6 c.1463C>A ;(p.S488Y)

Variant ID: 12-12332826-G-T

NM_002336.2(LRP6):c.1463C>A;(p.S488Y)

This variant was identified in 3 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: S488Y
PubMed Link: 27455246
Variant Present in the following documents:
  • ijms-17-01173-s001.pdf
View BVdb publication page



The LRP6 rs2302685 polymorphism is associated with increased risk of myocardial infarction.

Lipids In Health And Disease
Xu, Shun S; Cheng, Jie J; Chen, Yu-Ning YN; Li, Keshen K; Ma, Ze-Wei ZW; Cen, Jin-Ming JM; Liu, Xinguang X; Yang, Xi-Li XL; Chen, Can C; Xiong, Xing-Dong XD
Publication Date: 2014-06-07

Variant appearance in text: LRP6: S488Y
PubMed Link: 24906453
Variant Present in the following documents:
  • Main text
  • 1476-511X-13-94.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: S488Y
PubMed Link: 24427284
Variant Present in the following documents:
  • Main text
  • pone.0084345.pdf
View BVdb publication page