Variant ID: 1-55059627-CG-GC

NM_174936.3(PCSK9):c.1645_1646delinsGC;(p.R549A)

This variant was identified in 1 publication

View hg19 version.




Publications:


A proprotein convertase subtilisin-like/kexin type 9 (PCSK9) C-terminal domain antibody antigen-binding fragment inhibits PCSK9 internalization and restores low density lipoprotein uptake.

The Journal Of Biological Chemistry
Ni, Yan G YG; Condra, Jon H JH; Orsatti, Laura L; Shen, Xun X; Di Marco, Stefania S; Pandit, Shilpa S; Bottomley, Matthew J MJ; Ruggeri, Lionello L; Cummings, Richard T RT; Cubbon, Rose M RM; Santoro, Joseph C JC; Ehrhardt, Anka A; Lewis, Dale D; Fisher, Timothy S TS; Ha, Sookhee S; Njimoluh, Leila L; Wood, Dana D DD; Hammond, Holly A HA; Wisniewski, Douglas D; Volpari, Cinzia C; Noto, Alessia A; Lo Surdo, Paola P; Hubbard, Brian B; CarfĂ­, Andrea A; Sitlani, Ayesha A
Publication Date: 2010-04-23

Variant appearance in text: PCSK9: R549A
PubMed Link: 20172854
Variant Present in the following documents:
  • Main text
View BVdb publication page