PCSK9 c.316G>C ;(p.G106R)

Variant ID: 1-55509624-G-C

NM_174936.3(PCSK9):c.316G>C;(p.G106R)

This variant was identified in 15 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: PCSK9: G106R
PubMed Link: 36552895
Variant Present in the following documents:
  • Main text
  • cells-11-04132.pdf
View BVdb publication page



Genetic and molecular architecture of familial hypercholesterolemia.

Journal Of Internal Medicine
Abifadel, Marianne M; Boileau, Catherine C
Publication Date: 2022-10-04

Variant appearance in text: PCSK9: Gly106Arg
PubMed Link: 36196022
Variant Present in the following documents:
  • Main text
  • JOIM-293-144.pdf
View BVdb publication page



The Emerging Roles of Intracellular PCSK9 and Their Implications in Endoplasmic Reticulum Stress and Metabolic Diseases.

Metabolites
Lebeau, Paul F PF; Platko, Khrystyna K; Byun, Jae Hyun JH; Makda, Yumna Y; Austin, Richard C RC
Publication Date: 2022-02-26

Variant appearance in text: PCSK9: G106R
PubMed Link: 35323658
Variant Present in the following documents:
  • Main text
  • metabolites-12-00215.pdf
View BVdb publication page



Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.

Frontiers In Cardiovascular Medicine
Xia, Xiao-Dan XD; Peng, Zhong-Sheng ZS; Gu, Hong-Mei HM; Wang, Maggie M; Wang, Gui-Qing GQ; Zhang, Da-Wei DW
Publication Date: 2021

Variant appearance in text: PCSK9: G106R
PubMed Link: 34782856
Variant Present in the following documents:
  • Main text
  • fcvm-08-764038.pdf
View BVdb publication page



PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.

Biomedicines
Sundararaman, Sai Sahana SS; Döring, Yvonne Y; van der Vorst, Emiel P C EPC
Publication Date: 2021-07-08

Variant appearance in text: PCSK9: G106R
PubMed Link: 34356856
Variant Present in the following documents:
  • Main text
  • biomedicines-09-00793.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: PCSK9: G106R
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
  • fgene-11-01020.pdf
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
Chorba, John S JS; Galvan, Adri M AM; Shokat, Kevan M KM
Publication Date: 2018-02-09

Variant appearance in text: PCSK9: G106R
PubMed Link: 29259136
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: HCHOLA3: G106R
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: PCSK9: G106R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.

The Journal Of Clinical Endocrinology And Metabolism
Tsai, Ching-Wei CW; North, Kari E KE; Tin, Adrienne A; Haack, Karin K; Franceschini, Nora N; Saroja Voruganti, V V; Laston, Sandy S; Zhang, Ying Y; Best, Lyle G LG; MacCluer, Jean W JW; Beaty, Terri H TH; Navas-Acien, Ana A; Kao, W H Linda WH; Howard, Barbara V BV
Publication Date: 2015-02

Variant appearance in text: PCSK9: G106R
PubMed Link: 25412415
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
Ahmed, Waqas W; Whittall, Ros R; Riaz, Moeen M; Ajmal, Muhammad M; Sadeque, Ahmed A; Ayub, Humaira H; Qamar, Raheel R; Humphries, Steve E SE
Publication Date: 2013-06-05

Variant appearance in text: PCSK9: G106R
PubMed Link: 23535506
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular population genetics of PCSK9: a signature of recent positive selection.

Pharmacogenetics And Genomics
Ding, Keyue K; Kullo, Iftikhar J IJ
Publication Date: 2008-03

Variant appearance in text: PCSK9: G106R
PubMed Link: 18300938
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation at the PCSK9 locus moderately lowers low-density lipoprotein cholesterol levels, but does not significantly lower vascular disease risk in an elderly population.

Atherosclerosis
Polisecki, Eliana E; Peter, Inga I; Robertson, Michele M; McMahon, Alex D AD; Ford, Ian I; Packard, Christopher C; Shepherd, James J; Jukema, J Wouter JW; Blauw, Gerard J GJ; Westendorp, Rudi G J RG; de Craen, Anton J M AJ; Trompet, Stella S; Buckley, Brendan M BM; Murphy, Michael B MB; Ordovas, Jose M JM; Schaefer, Ernst J EJ; ,
Publication Date: 2008-09

Variant appearance in text: PCSK9: G106R
PubMed Link: 18262190
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular biology of PCSK9: its role in LDL metabolism.

Trends In Biochemical Sciences
Horton, Jay D JD; Cohen, Jonathan C JC; Hobbs, Helen H HH
Publication Date: 2007-02

Variant appearance in text: PCSK9: G106R
PubMed Link: 17215125
Variant Present in the following documents:
  • Main text
View BVdb publication page