LRP6 c.352_353delinsGC ;(p.R118A)

Variant ID: 12-12397292-CG-GC

NM_002336.2(LRP6):c.352_353delinsGC;(p.R118A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Mutational analysis of sclerostin shows importance of the flexible loop and the cystine-knot for Wnt-signaling inhibition.

Plos One
Boschert, Verena V; van Dinther, Maarten M; Weidauer, Stella S; van Pee, Katharina K; Muth, Eva-Maria EM; Ten Dijke, Peter P; Mueller, Thomas D TD
Publication Date: 2013

Variant appearance in text: LRP6: R118A
PubMed Link: 24312339
Variant Present in the following documents:
  • Main text
  • pone.0081710.pdf
View BVdb publication page



Structural and functional studies of LRP6 ectodomain reveal a platform for Wnt signaling.

Developmental Cell
Chen, Shuo S; Bubeck, Doryen D; MacDonald, Bryan T BT; Liang, Wen-Xue WX; Mao, Jian-Hua JH; Malinauskas, Tomas T; Llorca, Oscar O; Aricescu, A Radu AR; Siebold, Christian C; He, Xi X; Jones, E Yvonne EY
Publication Date: 2011-11-15

Variant appearance in text: LRP6: R118A
PubMed Link: 22000855
Variant Present in the following documents:
  • Main text
View BVdb publication page



Two structural and functional domains of MESD required for proper folding and trafficking of LRP5/6.

Structure (London, England : 1993)
Chen, Jianglei J; Liu, Chia-Chen CC; Li, Qianqian Q; Nowak, Christian C; Bu, Guojun G; Wang, Jianjun J
Publication Date: 2011-03-09

Variant appearance in text: LRP6: R118A
PubMed Link: 21397183
Variant Present in the following documents:
  • Main text
View BVdb publication page