CHRD c.1363_1364delinsTA ;(p.L455*)

Variant ID: 3-184101353-CT-TA

NM_003741.2(CHRD):c.1363_1364delinsTA;(p.L455*)

This variant was identified in 5 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

PCSK9 regulates the NODAL signaling pathway and cellular proliferation in hiPSCs.

Stem Cell Reports
Roudaut, Meryl M; Idriss, Salam S; Caillaud, Amandine A; Girardeau, Aurore A; Rimbert, Antoine A; Champon, Benoite B; David, Amandine A; Lévêque, Antoine A; Arnaud, Lucie L; Pichelin, Matthieu M; Prieur, Xavier X; Prat, Annik A; Seidah, Nabil G NG; Zibara, Kazem K; Le May, Cedric C; Cariou, Bertrand B; Si-Tayeb, Karim K
Publication Date: 2021-10-26

Variant appearance in text: CHRD: L455X
PubMed Link: 34739847
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc3.pdf
View BVdb publication page


PCSK9 regulates the NODAL signaling pathway and cellular proliferation in hiPSCs.

Stem Cell Reports
Roudaut, Meryl M; Idriss, Salam S; Caillaud, Amandine A; Girardeau, Aurore A; Rimbert, Antoine A; Champon, Benoite B; David, Amandine A; Lévêque, Antoine A; Arnaud, Lucie L; Pichelin, Matthieu M; Prieur, Xavier X; Prat, Annik A; Seidah, Nabil G NG; Zibara, Kazem K; Le May, Cedric C; Cariou, Bertrand B; Si-Tayeb, Karim K
Publication Date: 2021-12-14

Variant appearance in text: CHRD: L455X
PubMed Link: 34739847
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc3.pdf
View BVdb publication page


An Unbiased Mass Spectrometry Approach Identifies Glypican-3 as an Interactor of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR) in Hepatocellular Carcinoma Cells.

The Journal Of Biological Chemistry
Ly, Kévin K; Essalmani, Rachid R; Desjardins, Roxane R; Seidah, Nabil G NG; Day, Robert R
Publication Date: 2016-11-18

Variant appearance in text: CHRD: L455X
PubMed Link: 27758865
Variant Present in the following documents:
  • Main text
View BVdb publication page


Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Single Domain Antibodies Are Potent Inhibitors of Low Density Lipoprotein Receptor Degradation.

The Journal Of Biological Chemistry
Weider, Elodie E; Susan-Resiga, Delia D; Essalmani, Rachid R; Hamelin, Josée J; Asselin, Marie-Claude MC; Nimesh, Surendra S; Ashraf, Yahya Y; Wycoff, Keith L KL; Zhang, Jianbing J; Prat, Annik A; Seidah, Nabil G NG
Publication Date: 2016-08-05

Variant appearance in text: CHRD: L455X
PubMed Link: 27284008
Variant Present in the following documents:
  • Main text
View BVdb publication page


The biology of PCSK9 from the endoplasmic reticulum to lysosomes: new and emerging therapeutics to control low-density lipoprotein cholesterol.

Drug Design, Development And Therapy
Poirier, Steve S; Mayer, Gaétan G
Publication Date: 2013

Variant appearance in text: CHRD: L455X
PubMed Link: 24115837
Variant Present in the following documents:
  • Main text
  • dddt-7-1135.pdf
View BVdb publication page


PCSK9 prosegment chimera as novel inhibitors of LDLR degradation.

Plos One
Saavedra, Yascara Grisel Luna YG; Zhang, Jianbing J; Seidah, Nabil G NG
Publication Date: 2013

Variant appearance in text: CHRD: L455X
PubMed Link: 23951290
Variant Present in the following documents:
  • Main text
View BVdb publication page