PCSK9 c.277_278delinsGC ;(p.R93A)

Variant ID: 1-55509585-CG-GC

NM_174936.3(PCSK9):c.277_278delinsGC;(p.R93A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cell-associated heparin-like molecules modulate the ability of LDL to regulate PCSK9 uptake.

Journal Of Lipid Research
Galvan, Adri M AM; Chorba, John S JS
Publication Date: 2019-01

Variant appearance in text: PCSK9: R93A
PubMed Link: 30463987
Variant Present in the following documents:
  • Main text
View BVdb publication page



Endopeptidase cleavage generates a functionally distinct isoform of C1q/tumor necrosis factor-related protein-12 (CTRP12) with an altered oligomeric state and signaling specificity.

The Journal Of Biological Chemistry
Wei, Zhikui Z; Lei, Xia X; Seldin, Marcus M MM; Wong, G William GW
Publication Date: 2012-10-19

Variant appearance in text: PCSK9: R93A
PubMed Link: 22942287
Variant Present in the following documents:
  • Main text
View BVdb publication page