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PCSK9 c.454_455delinsAC ;(p.Q152T)
Variant ID: 1-55512250-CA-AC
NM_174936.3(
PCSK9
):c.454_455delinsAC;(p.Q152T)
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:
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: Q152T
PubMed Link:
22875854
Variant Present in the following documents:
Main text
View BVdb publication page