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PCSK9 c.503C>A ;(p.A168E)
Variant ID: 1-55512299-C-A
NM_174936.3(
PCSK9
):c.503C>A;(p.A168E)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: A168E
PubMed Link:
34782856
Variant Present in the following documents:
Main text
fcvm-08-764038.pdf
View BVdb publication page
PCSK9 Gene Participates in the Development of Primary Dyslipidemias.
Balkan Journal Of Medical Genetics : Bjmg
Matías-Pérez, D D; Pérez-Santiago, A D AD; Sánchez Medina, M A MA; Alpuche Osorno, J J JJ; García-Montalvo, I A IA
Publication Date: 2021-06
Variant appearance in text: PCSK9: A168E
PubMed Link:
34447653
Variant Present in the following documents:
Main text
bjmg-24-005.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: A168E
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: A168E
PubMed Link:
29259136
Variant Present in the following documents:
Main text
View BVdb publication page