Variant ID: 1-55509694-A-G

NM_174936.3(PCSK9):c.386A>G;(p.Asp129Gly)

This variant was identified in 6 publications




Publications:


Cell-associated heparin-like molecules modulate the ability of LDL to regulate PCSK9 uptake.

Journal Of Lipid Research
AM Galvan, JS Chorba
Publication Date: 2019-01

Variant appearance in text: PCSK9: D129G
PMID: 30463987
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PCSK9: From Basic Science Discoveries to Clinical Trials.

Circulation Research
MD Shapiro, H Tavori, S Fazio
Publication Date: 2018-05-11

Variant appearance in text: PCSK9: D129G
PMID: 29748367
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Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain.

Plos One
S Poirier, HA Hamouda, L Villeneuve, A Demers, G Mayer
Publication Date: 2016

Variant appearance in text: PCSK9: D129G
PMID: 27280970
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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
QT Le, M Blanchet, NG Seidah, P Labonté
Publication Date: 2015-09-18

Variant appearance in text: PCSK9: D129G
PMID: 26195630
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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
S Calandra, P Tarugi, HE Speedy, AF Dean, S Bertolini, CC Shoulders
Publication Date: 2011-11

Variant appearance in text: PCSK9: D129G
PMID: 21862702
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Common and rare gene variants affecting plasma LDL cholesterol.

The Clinical Biochemist. Reviews
JR Burnett, AJ Hooper
Publication Date: 2008-02

Variant appearance in text: PCSK9: D129G
PMID: 18566665
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.386A>G p.Asp129Gly missense_variant 2/12 -
ENST00000452118.2 c.386A>G p.Asp129Gly missense_variant 2/6 -
ENST00000543384.1 c.-78+3618A>G - intron_variant - 1/9
NM_174936.4 c.386A>G p.Asp129Gly missense_variant 2/12 -
NR_110451.1 n.182+3618A>G - intron_variant,non_coding_transcript_variant - 1/9