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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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