LRP1 c.10499_10500delinsAA ;(p.R3500Q)

Variant ID: 12-57595593-GC-AA

NM_002332.2(LRP1):c.10499_10500delinsAA;(p.R3500Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.

International Journal Of Molecular Sciences
Pan-Lizcano, Ricardo R; Mariñas-Pardo, Luis L; Núñez, Lucía L; Rebollal-Leal, Fernando F; López-Vázquez, Domingo D; Pereira, Ana A; Molina-Nieto, Aranzazu A; Calviño, Ramón R; Vázquez-Rodríguez, Jose Manuel JM; Hermida-Prieto, Manuel M
Publication Date: 2022-12-17

Variant appearance in text: LRP1: R3500Q
PubMed Link: 36555767
Variant Present in the following documents:
  • Main text
  • ijms-23-16127.pdf
View BVdb publication page



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: LRP1: R3500Q
PubMed Link: 21862702
Variant Present in the following documents:
  • Main text
View BVdb publication page