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PCSK9 c.1438G>A ;(p.D480N)
Variant ID: 1-55524255-G-A
NM_174936.3(
PCSK9
):c.1438G>A;(p.D480N)
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:
Molecular interactions of PCSK9 with an inhibitory nanobody, CAP1 and HLA-C: functional regulation of LDLR levels.
Molecular Metabolism
Gaillard, Carole Fruchart CF; Ben Djoudi Ouadda, Ali A; Ciccone, Lidia L; Girard, Emmanuelle E; Mikaeeli, Sepideh S; Evagelidis, Alexandra A; Le Dévéhat, Maïlys M; Susan-Resiga, Delia D; Lajeunesse, Evelyne Cassar EC; Nozach, Hervé H; Pereira Ramos, Oscar Henrique OH; Thureau, Aurélien A; Legrand, Pierre P; Prat, Annik A; Dive, Vincent V; Seidah, Nabil G NG
Publication Date: 2022-12-22
Variant appearance in text: PCSK9: D480N
PubMed Link:
36566984
Variant Present in the following documents:
Main text
main.pdf
mmc1.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: D480N
PubMed Link:
22875854
Variant Present in the following documents:
Main text
View BVdb publication page