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Variant ID: 1-55512250-CA-GC
NM_174936.3(
PCSK9
):c.454_455delinsGC;(p.Q152A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: Q152A
PubMed Link:
29259136
Variant Present in the following documents:
Main text
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
Benjannet, Suzanne S; Hamelin, Josée J; Chrétien, Michel M; Seidah, Nabil G NG
Publication Date: 2012-09-28
Variant appearance in text: PCSK9: Q152A
PubMed Link:
22875854
Variant Present in the following documents:
Main text
View BVdb publication page