LRP6 c.473G>T ;(p.G158V)

Variant ID: 12-12356311-C-A

NM_002336.2(LRP6):c.473G>T;(p.G158V)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Secreted and transmembrane wnt inhibitors and activators.

Cold Spring Harbor Perspectives In Biology
Cruciat, Cristina-Maria CM; Niehrs, Christof C
Publication Date: 2013-03-01

Variant appearance in text: LRP6: G158V
PubMed Link: 23085770
Variant Present in the following documents:
  • Main text
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Structural basis of Wnt signaling inhibition by Dickkopf binding to LRP5/6.

Developmental Cell
Ahn, Victoria E VE; Chu, Matthew Ling-Hon ML; Choi, Hee-Jung HJ; Tran, Denise D; Abo, Arie A; Weis, William I WI
Publication Date: 2011-11-15

Variant appearance in text: LRP6: G158V
PubMed Link: 22000856
Variant Present in the following documents:
  • Main text
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The role of Dickkopf-1 in bone development, homeostasis, and disease.

Blood
Pinzone, Joseph J JJ; Hall, Brett M BM; Thudi, Nanda K NK; Vonau, Martin M; Qiang, Ya-Wei YW; Rosol, Thomas J TJ; Shaughnessy, John D JD
Publication Date: 2009-01-15

Variant appearance in text: LRP6: G158V
PubMed Link: 18687985
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reduced affinity to and inhibition by DKK1 form a common mechanism by which high bone mass-associated missense mutations in LRP5 affect canonical Wnt signaling.

Molecular And Cellular Biology
Ai, Minrong M; Holmen, Sheri L SL; Van Hul, Wim W; Williams, Bart O BO; Warman, Matthew L ML
Publication Date: 2005-06

Variant appearance in text: LRP6: G158V
PubMed Link: 15923613
Variant Present in the following documents:
  • Main text
View BVdb publication page



The LRP5 high-bone-mass G171V mutation disrupts LRP5 interaction with Mesd.

Molecular And Cellular Biology
Zhang, Yazhou Y; Wang, Yang Y; Li, Xiaofeng X; Zhang, Jianhong J; Mao, Junhao J; Li, Zhong Z; Zheng, Jie J; Li, Lin L; Harris, Steve S; Wu, Dianqing D
Publication Date: 2004-06

Variant appearance in text: LRP6: G158V
PubMed Link: 15143163
Variant Present in the following documents:
  • Main text
View BVdb publication page