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LRP6 c.4723_4724delinsGC ;(p.S1575A)
Variant ID: 12-12274178-CT-GC
NM_002336.2(
LRP6
):c.4723_4724delinsGC;(p.S1575A)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Disabled-2 (Dab2) inhibits Wnt/β-catenin signalling by binding LRP6 and promoting its internalization through clathrin.
The Embo Journal
Jiang, Yong Y; He, Xi X; Howe, Philip H PH
Publication Date: 2012-05-16
Variant appearance in text: LRP6: S1575A
PubMed Link:
22491013
Variant Present in the following documents:
emboj201283s1.pdf
View BVdb publication page