PKD1 c.142_144delinsAAG ;(p.R48K)

Variant ID: 16-2185547-GCG-CTT

NM_001009944.2(PKD1):c.142_144delinsAAG;(p.R48K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


β-TrCP Restricts Lipopolysaccharide (LPS)-Induced Activation of TRAF6-IKK Pathway Upstream of IκBα Signaling.

Frontiers In Immunology
Liu, Jin J; Yuan, Yukang Y; Xu, Jing J; Xiao, Kui K; Xu, Ying Y; Guo, Tingting T; Zhang, Liting L; Wang, Jun J; Zheng, Hui H
Publication Date: 2018

Variant appearance in text: PKD1: R48K
PubMed Link: 30619291
Variant Present in the following documents:
  • Main text
  • fimmu-09-02930.pdf
View BVdb publication page



Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications
North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ
Publication Date: 2018-05-14

Variant appearance in text: PKD1: R48K
PubMed Link: 29760388
Variant Present in the following documents:
  • 41467_2018_4008_MOESM3_ESM.xlsx, sheet 32
View BVdb publication page