LRP6 c.4786_4787delinsGC ;(p.S1596A)

Variant ID: 12-12274115-CT-GC

NM_002336.2(LRP6):c.4786_4787delinsGC;(p.S1596A)

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: S1596A
PubMed Link: 22491013
Variant Present in the following documents:
  • emboj201283s1.pdf
View BVdb publication page