Variant ID: 3-184101353-CT-TA

NM_003741.2(CHRD):c.1363_1364delinsTA;(p.Leu455*)

This variant was identified in 4 publications




Publications:


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
K Ly, R Essalmani, R Desjardins, NG Seidah, R Day
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
E Weider, D Susan-Resiga, R Essalmani, J Hamelin, MC Asselin, S Nimesh, Y Ashraf, KL Wycoff, J Zhang, A Prat, NG Seidah
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
S Poirier, G Mayer
Publication Date: 2013

Variant appearance in text: CHRD: L455X
PubMed Link: 24115837
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 prosegment chimera as novel inhibitors of LDLR degradation.

Plos One
YG Saavedra, J Zhang, NG Seidah
Publication Date: 2013

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



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000204604.1 c.1363_1364delinsTA p.Leu455* stop_gained 12/23 -
ENST00000348986.3 c.1320+147_1320+148delinsTA - intron_variant - 11/21
ENST00000420973.1 c.*281_*282delinsTA - 3_prime_UTR_variant,NMD_transcript_variant 12/23 -
ENST00000444495.1 c.2106+238858_2106+238859delinsTA - intron_variant - 15/15
ENST00000448472.1 c.*1104_*1105delinsTA - 3_prime_UTR_variant,NMD_transcript_variant 13/24 -
ENST00000450923.1 c.1363_1364delinsTA p.Leu455* stop_gained 12/23 -
ENST00000460627.1 n.2386_2387delinsTA - non_coding_transcript_exon_variant 7/16 -
ENST00000470150.1 n.1519_1520delinsTA - non_coding_transcript_exon_variant 10/20 -
ENST00000545352.1 c.253_254delinsTA p.Leu85* stop_gained 4/14 -
NM_001304472.1 c.1363_1364delinsTA p.Leu455* stop_gained 12/23 -
NM_001304473.2 c.253_254delinsTA p.Leu85* stop_gained 13/24 -
NM_001304474.2 c.253_254delinsTA p.Leu85* stop_gained 12/23 -
NM_003741.3 c.1363_1364delinsTA p.Leu455* stop_gained 12/23 -
NR_130747.2 n.1530_1531delinsTA - non_coding_transcript_exon_variant 10/20 -