LRP6 c.3949T>C ;(p.S1317P)

Variant ID: 12-12284776-A-G

NM_002336.2(LRP6):c.3949T>C;(p.S1317P)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Extracellular LDLR repeats modulate Wnt signaling activity by promoting LRP6 receptor endocytosis mediated by the Itch E3 ubiquitin ligase.

Genes & Cancer
Vijayakumar, Sapna S; Liu, Guizhong G; Wen, Huei-Chi HC; Abu, Yaa Y; Chong, Robert R; Nastri, Horacio H; Bornstein, Gadi G GG; Pan, Zhen-Qiang ZQ; Aaronson, Stuart A SA
Publication Date: 2017-07

Variant appearance in text: LRP6: S1317P
PubMed Link: 28966723
Variant Present in the following documents:
  • Main text
  • ganc-08-613.pdf
View BVdb publication page