Variant ID: 1-55529211-G-A

NM_174936.3(PCSK9):c.2033G>A;(p.C678Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC
Publication Date: 2011-11

Variant appearance in text: PCSK9: C678Y
PubMed Link: 21862702
Variant Present in the following documents:
  • Main text
View BVdb publication page



Regulation of ApoB secretion by the low density lipoprotein receptor requires exit from the endoplasmic reticulum and interaction with ApoE or ApoB.

The Journal Of Biological Chemistry
Blasiole, Daniel A DA; Oler, Angie T AT; Attie, Alan D AD
Publication Date: 2008-04-25

Variant appearance in text: PCSK9: C678Y
PubMed Link: 18272520
Variant Present in the following documents:
  • Main text
View BVdb publication page