Bibliome.ai browser hg19
Search
About
Stats
FAQ
PCSK9 c.457_459delinsCAA ;(p.S153Q)
Variant ID: 1-55512253-AGC-CAA
NM_174936.3(
PCSK9
):c.457_459delinsCAA;(p.S153Q)
This variant was identified in 1 publication
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: S153Q
PubMed Link:
29259136
Variant Present in the following documents:
Main text
View BVdb publication page