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LRP6 c.4468T>G ;(p.S1490A)
Variant ID: 12-12277578-A-C
NM_002336.2(
LRP6
):c.4468T>G;(p.S1490A)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Stability elements in the LRP6 cytoplasmic tail confer efficient signalling upon DIX-dependent polymerization.
Journal Of Cell Science
Metcalfe, Ciara C; Mendoza-Topaz, Carolina C; Mieszczanek, Juliusz J; Bienz, Mariann M
Publication Date: 2010-05-01
Variant appearance in text: LRP6: S1490A
PubMed Link:
20388731
Variant Present in the following documents:
Main text
View BVdb publication page
Direct inhibition of GSK3beta by the phosphorylated cytoplasmic domain of LRP6 in Wnt/beta-catenin signaling.
Plos One
Piao, Shunfu S; Lee, Sun-Hye SH; Kim, Hyunjoon H; Yum, Soohwan S; Stamos, Jennifer L JL; Xu, Yongbin Y; Lee, Su-Jin SJ; Lee, Jaewon J; Oh, Sangtaek S; Han, Jin-Kwan JK; Park, Bum-Joon BJ; Weis, William I WI; Ha, Nam-Chul NC
Publication Date: 2008
Variant appearance in text: LRP6: S1490A
PubMed Link:
19107203
Variant Present in the following documents:
Main text
pone.0004046.pdf
View BVdb publication page
Wnt signal amplification via activity, cooperativity, and regulation of multiple intracellular PPPSP motifs in the Wnt co-receptor LRP6.
The Journal Of Biological Chemistry
MacDonald, Bryan T BT; Yokota, Chika C; Tamai, Keiko K; Zeng, Xin X; He, Xi X
Publication Date: 2008-06-06
Variant appearance in text: LRP6: S1490A
PubMed Link:
18362152
Variant Present in the following documents:
Main text
View BVdb publication page