LRP6 c.1276_1277delinsGC ;(p.R426A)

Variant ID: 12-12334073-CG-GC

NM_002336.2(LRP6):c.1276_1277delinsGC;(p.R426A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Wnt/β-catenin signaling requires interaction of the Dishevelled DEP domain and C terminus with a discontinuous motif in Frizzled.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Tauriello, Daniele V F DV; Jordens, Ingrid I; Kirchner, Katharina K; Slootstra, Jerry W JW; Kruitwagen, Tom T; Bouwman, Britta A M BA; Noutsou, Maria M; Rüdiger, Stefan G D SG; Schwamborn, Klaus K; Schambony, Alexandra A; Maurice, Madelon M MM
Publication Date: 2012-04-03

Variant appearance in text: LRP6: R426A
PubMed Link: 22411803
Variant Present in the following documents:
  • Main text
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: R426A
PubMed Link: 22000855
Variant Present in the following documents:
  • Main text
View BVdb publication page