Variant ID: 1-55512252-G-C

NM_174936.3(PCSK9):c.456G>C;(p.Gln152His)

This variant was identified in 16 publications




Publications:


Pcsk9 knockout exacerbates diet-induced non-alcoholic steatohepatitis, fibrosis and liver injury in mice.

Jhep Reports (Online)
PF Lebeau, JH Byun, K Platko, AA Al-Hashimi, Š Lhoták, ME MacDonald, A Mejia-Benitez, A Prat, SA Igdoura, B Trigatti, KN Maclean, NG Seidah, RC Austin
Publication Date: 2019-12

Variant appearance in text: PCSK9: Q152H
PMID: 32039393
View BVdb publication page



Novel strategies to target proprotein convertase subtilisin kexin 9: beyond monoclonal antibodies.

Cardiovascular Research
NG Seidah, A Prat, A Pirillo, AL Catapano, GD Norata
Publication Date: 2019-03-01

Variant appearance in text: PCSK9: Q152H
PMID: 30629143
View BVdb publication page



Loss-of-function PCSK9 mutants evade the unfolded protein response sensor GRP78 and fail to induce endoplasmic reticulum stress when retained.

The Journal Of Biological Chemistry
P Lebeau, K Platko, AA Al-Hashimi, JH Byun, Š Lhoták, N Holzapfel, G Gyulay, SA Igdoura, DR Cool, B Trigatti, NG Seidah, RC Austin
Publication Date: 2018-05-11

Variant appearance in text: PCSK9: Q152H
PMID: 29593095
View BVdb publication page



Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.

The Journal Of Biological Chemistry
JS Chorba, AM Galvan, KM Shokat
Publication Date: 2018-02-09

Variant appearance in text: PCSK9: Q152H
PMID: 29259136
View BVdb publication page



PCSK9 as a therapeutic target for cardiovascular disease.

Experimental And Therapeutic Medicine
PY Zhang
Publication Date: 2017-03

Variant appearance in text: PCSK9: Q152H
PMID: 28450903
View BVdb publication page



Lowering serum lipids via PCSK9-targeting drugs: current advances and future perspectives.

Acta Pharmacologica Sinica
NY He, Q Li, CY Wu, Z Ren, Y Gao, LH Pan, MM Wang, HY Wen, ZS Jiang, ZH Tang, LS Liu
Publication Date: 2017-03

Variant appearance in text: PCSK9: Q152H
PMID: 28112180
View BVdb publication page



Point mutations at the catalytic site of PCSK9 inhibit folding, autoprocessing, and interaction with the LDL receptor.

Protein Science : A Publication Of The Protein Society
CW Garvie, CV Fraley, NH Elowe, EK Culyba, CT Lemke, BK Hubbard, VK Kaushik, DS Daniels
Publication Date: 2016-11

Variant appearance in text: PCSK9: Q152H
PMID: 27534510
View BVdb publication page



Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain.

Plos One
S Poirier, HA Hamouda, L Villeneuve, A Demers, G Mayer
Publication Date: 2016

Variant appearance in text: PCSK9: Q152H
PMID: 27280970
View BVdb publication page



β-Estradiol results in a proprotein convertase subtilisin/kexin type 9-dependent increase in low-density lipoprotein receptor levels in human hepatic HuH7 cells.

The Febs Journal
AE Starr, V Lemieux, J Noad, JI Moore, T Dewpura, A Raymond, M Chrétien, D Figeys, J Mayne
Publication Date: 2015-07

Variant appearance in text: PCSK9: Q152H
PMID: 25913303
View BVdb publication page



The proprotein convertase subtilisin/kexin type 9 (PCSK9) active site and cleavage sequence differentially regulate protein secretion from proteolysis.

The Journal Of Biological Chemistry
JS Chorba, KM Shokat
Publication Date: 2014-10-17

Variant appearance in text: PCSK9: Q152H
PMID: 25210046
View BVdb publication page



Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts.

Frontiers In Genetics
P Sleiman, J Bradfield, F Mentch, B Almoguera, J Connolly, H Hakonarson
Publication Date: 2014

Variant appearance in text: PCSK9: Q152H
PMID: 24808909
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: PCSK9: Q152H
PMID: 23951290
View BVdb publication page



The multifaceted proprotein convertases: their unique, redundant, complementary, and opposite functions.

The Journal Of Biological Chemistry
NG Seidah, MS Sadr, M Chrétien, M Mbikay
Publication Date: 2013-07-26

Variant appearance in text: PCSK9: Q152H
PMID: 23775089
View BVdb publication page



Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations.

Lipids In Health And Disease
J Mayne, TC Ooi, A Raymond, M Cousins, L Bernier, T Dewpura, F Sirois, M Mbikay, J Davignon, M Chrétien
Publication Date: 2013-05-10

Variant appearance in text: PCSK9: Q152H
PMID: 23663650
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, SE Humphries
Publication Date: 2013-06-05

Variant appearance in text: PCSK9: Q152H
PMID: 23535506
View BVdb publication page



Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.

The Journal Of Biological Chemistry
S Benjannet, J Hamelin, M Chrétien, NG Seidah
Publication Date: 2012-09-28

Variant appearance in text: PCSK9: Q152H
PMID: 22875854
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.456G>C p.Gln152His missense_variant 3/12 -
ENST00000452118.2 c.456G>C p.Gln152His missense_variant 3/6 -
ENST00000543384.1 c.-77-5699G>C - intron_variant - 1/9
NM_174936.4 c.456G>C p.Gln152His missense_variant 3/12 -
NR_110451.1 n.183-5699G>C - intron_variant,non_coding_transcript_variant - 1/9