APOB c.379_380delinsCG ;(p.S127R)

Variant ID: 2-21263813-GA-CG

NM_000384.2(APOB):c.379_380delinsCG;(p.S127R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The Multifaceted Biology of PCSK9.

Endocrine Reviews
Seidah, Nabil G NG; Prat, Annik A
Publication Date: 2022-05-12

Variant appearance in text: APOB: S127R
PubMed Link: 35552680
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 Biology and Its Role in Atherothrombosis.

International Journal Of Molecular Sciences
Barale, Cristina C; Melchionda, Elena E; Morotti, Alessandro A; Russo, Isabella I
Publication Date: 2021-05-30

Variant appearance in text: APOB: S127R
PubMed Link: 34070931
Variant Present in the following documents:
  • Main text
  • ijms-22-05880.pdf
View BVdb publication page



A common PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, is a novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronary atherosclerosis.

Journal Of The American College Of Cardiology
Chen, Suet N SN; Ballantyne, Christie M CM; Gotto, Antonio M AM; Tan, Yanli Y; Willerson, James T JT; Marian, Ali J AJ
Publication Date: 2005-05-17

Variant appearance in text: APOB: S127R
PubMed Link: 15893176
Variant Present in the following documents:
  • Main text
View BVdb publication page