LDLRAP1 c.192G>C ;(p.E64D)

Variant ID: 1-25880516-G-C

NM_015627.2(LDLRAP1):c.192G>C;(p.E64D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Amyloid Precursor-like Protein 2 and Sortilin Do Not Regulate the PCSK9 Convertase-mediated Low Density Lipoprotein Receptor Degradation but Interact with Each Other.

The Journal Of Biological Chemistry
Butkinaree, Chutikarn C; Canuel, Maryssa M; Essalmani, Rachid R; Poirier, Steve S; Benjannet, Suzanne S; Asselin, Marie-Claude MC; Roubtsova, Anna A; Hamelin, Josée J; Marcinkiewicz, Jadwiga J; Chamberland, Ann A; Guillemot, Johann J; Mayer, Gaétan G; Sisodia, Sangram S SS; Jacob, Yves Y; Prat, Annik A; Seidah, Nabil G NG
Publication Date: 2015-07-24

Variant appearance in text: ARH: E64d
PubMed Link: 26085104
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular characterization of proprotein convertase subtilisin/kexin type 9-mediated degradation of the LDLR.

Journal Of Lipid Research
Wang, Yan Y; Huang, Yongcheng Y; Hobbs, Helen H HH; Cohen, Jonathan C JC
Publication Date: 2012-09

Variant appearance in text: ARH: E64d
PubMed Link: 22764087
Variant Present in the following documents:
  • Main text
  • 1932.pdf
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Overexpression of PCSK9 accelerates the degradation of the LDLR in a post-endoplasmic reticulum compartment.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Maxwell, Kara N KN; Fisher, Edward A EA; Breslow, Jan L JL
Publication Date: 2005-02-08

Variant appearance in text: ARH: E64d
PubMed Link: 15677715
Variant Present in the following documents:
  • Main text
View BVdb publication page