LRP6 c.4156G>C ;(p.V1386L)

Variant ID: 12-12279781-C-G

NM_002336.2(LRP6):c.4156G>C;(p.V1386L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects.

Cells
Wang, Mingqin M; Marco, Patrizia de P; Capra, Valeria V; Kibar, Zoha Z
Publication Date: 2019-10-04

Variant appearance in text: LRP6: Val1386Leu
PubMed Link: 31590237
Variant Present in the following documents:
  • Main text
  • cells-08-01198.pdf
View BVdb publication page



Molecular genetics and targeted therapy of WNT-related human diseases (Review).

International Journal Of Molecular Medicine
Katoh, Masuko M; Katoh, Masaru M
Publication Date: 2017-09

Variant appearance in text: LRP6: V1386L
PubMed Link: 28731148
Variant Present in the following documents:
  • Main text
  • ijmm-40-03-0587.pdf
View BVdb publication page



Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway.

Human Molecular Genetics
Allache, Redouane R; Lachance, Stéphanie S; Guyot, Marie Claude MC; De Marco, Patrizia P; Merello, Elisa E; Justice, Monica J MJ; Capra, Valeria V; Kibar, Zoha Z
Publication Date: 2014-04-01

Variant appearance in text: LRP6: Val1386Leu
PubMed Link: 24203697
Variant Present in the following documents:
  • Main text
View BVdb publication page