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PCSK9 c.454_455inv ;(p.Q152W)
Variant ID: 1-55512250-CA-TG
NM_174936.3(
PCSK9
):c.454_455inv;(p.Q152W)
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:
PCSK9 prosegment chimera as novel inhibitors of LDLR degradation.
Plos One
Saavedra, Yascara Grisel Luna YG; Zhang, Jianbing J; Seidah, Nabil G NG
Publication Date: 2013
Variant appearance in text: PCSK9: Q152W
PubMed Link:
23951290
Variant Present in the following documents:
Main text
pone.0072113.pdf
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: Q152W
PubMed Link:
22875854
Variant Present in the following documents:
Main text
View BVdb publication page