LRP6 c.3955G>A ;(p.E1319K)

Variant ID: 12-12284770-C-T

NM_002336.2(LRP6):c.3955G>A;(p.E1319K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology
Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J
Publication Date: 2021-07

Variant appearance in text: LRP6: 3955G>A; E1319K
PubMed Link: 33482222
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
View BVdb publication page



Extracellular LDLR repeats modulate Wnt signaling activity by promoting LRP6 receptor endocytosis mediated by the Itch E3 ubiquitin ligase.

Genes & Cancer
Vijayakumar, Sapna S; Liu, Guizhong G; Wen, Huei-Chi HC; Abu, Yaa Y; Chong, Robert R; Nastri, Horacio H; Bornstein, Gadi G GG; Pan, Zhen-Qiang ZQ; Aaronson, Stuart A SA
Publication Date: 2017-07

Variant appearance in text: LRP6: E1319K
PubMed Link: 28966723
Variant Present in the following documents:
  • Main text
  • ganc-08-613.pdf
View BVdb publication page