LDLR c.1274A>G ;(p.N425S)

Variant ID: 19-11224041-A-G

NM_000527.4(LDLR):c.1274A>G;(p.N425S)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


PCSK9 in Liver Cancers at the Crossroads between Lipid Metabolism and Immunity.

Cells
Alannan, Malak M; Seidah, Nabil G NG; Merched, Aksam J AJ
Publication Date: 2022-12-19

Variant appearance in text: LDLR: N425S
PubMed Link: 36552895
Variant Present in the following documents:
  • Main text
  • cells-11-04132.pdf
View BVdb publication page



The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics
Kamar, Amina A; Khalil, Athar A; Nemer, Georges G
Publication Date: 2020

Variant appearance in text: LDLR: Asn425Ser
PubMed Link: 33519890
Variant Present in the following documents:
  • Main text
  • fgene-11-572045.pdf
View BVdb publication page



PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Guo, Qianyun Q; Feng, Xunxun X; Zhou, Yujie Y
Publication Date: 2020

Variant appearance in text: LDLR: N425S
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
  • fgene-11-01020.pdf
View BVdb publication page



Identifying individual risk rare variants using protein structure guided local tests (POINT).

Plos Computational Biology
Marceau West, Rachel R; Lu, Wenbin W; Rotroff, Daniel M DM; Kuenemann, Melaine A MA; Chang, Sheng-Mao SM; Wu, Michael C MC; Wagner, Michael J MJ; Buse, John B JB; Motsinger-Reif, Alison A AA; Fourches, Denis D; Tzeng, Jung-Ying JY
Publication Date: 2019-02

Variant appearance in text: LDLR: N425S
PubMed Link: 30779729
Variant Present in the following documents:
  • Main text
  • pcbi.1006722.pdf
View BVdb publication page



Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.

The Journal Of Biological Chemistry
Le, Quoc-Tuan QT; Blanchet, Matthieu M; Seidah, Nabil G NG; Labonté, Patrick P
Publication Date: 2015-09-18

Variant appearance in text: LDLR: N425S
PubMed Link: 26195630
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease.

Bioinformatics (Oxford, England)
Xin, Fuxiao F; Myers, Steven S; Li, Yong Fuga YF; Cooper, David N DN; Mooney, Sean D SD; Radivojac, Predrag P
Publication Date: 2010-08-15

Variant appearance in text: LDLR: N425S
PubMed Link: 20551136
Variant Present in the following documents:
  • Main text
View BVdb publication page