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PCSK9 c.161A>C ;(p.E54A)
Variant ID: 1-55505671-A-C
NM_174936.3(
PCSK9
):c.161A>C;(p.E54A)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding.
Frontiers In Physiology
Sarkar, Samantha K SK; Matyas, Angela A; Asikhia, Ikhuosho I; Hu, Zhenkun Z; Golder, Mia M; Beehler, Kaitlyn K; Kosenko, Tanja T; Lagace, Thomas A TA
Publication Date: 2022
Variant appearance in text: PCSK9: E54A
PubMed Link:
36187800
Variant Present in the following documents:
Main text
fphys-13-960272.pdf
View BVdb publication page
Universal Screening for Familial Hypercholesterolemia in Children in Kagawa, Japan.
Journal Of Atherosclerosis And Thrombosis
Matsunaga, Keiji K; Mizobuchi, Asako A; Ying Fu, Hai H; Ishikawa, Shohei S; Tada, Hayato H; Kawashiri, Masa-Aki MA; Yokota, Ichiro I; Sasaki, Tsuyoshi T; Ito, Shigeru S; Kunikata, Jun J; Iwase, Takashi T; Hirao, Tomohiro T; Yokoyama, Katsunori K; Hoshikawa, Yoichi Y; Fujisawa, Takuji T; Dobashi, Kazushige K; Kusaka, Takashi T; Minamino, Tetsuo T
Publication Date: 2022-06-01
Variant appearance in text: PCSK9: Glu54Ala
PubMed Link:
34176852
Variant Present in the following documents:
jat-29-839.pdf
View BVdb publication page
Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.
The Journal Of Biological Chemistry
Le, Quoc-Tuan QT; Blanchet, Matthieu M; Seidah, Nabil G NG; Labonté, Patrick P
Publication Date: 2015-09-18
Variant appearance in text: PCSK9: E54A
PubMed Link:
26195630
Variant Present in the following documents:
Main text
View BVdb publication page