Variant ID: 1-55523077-G-A

NM_174936.3(PCSK9):c.1070G>A;(p.Arg357His)

This variant was identified in 4 publications




Publications:


Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia.

Scientific Reports
MD Di Taranto, A Benito-Vicente, C Giacobbe, KB Uribe, P Rubba, A Etxebarria, O Guardamagna, M Gentile, C Martín, G Fortunato
Publication Date: 2017-11-10

Variant appearance in text: PCSK9: Arg357His
PMID: 29127338
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
QT Le, M Blanchet, NG Seidah, P Labonté
Publication Date: 2015-09-18

Variant appearance in text: PCSK9: R357H
PMID: 26195630
View BVdb publication page



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: R357H
PMID: 21862702
View BVdb publication page



Self-association of human PCSK9 correlates with its LDLR-degrading activity.

Biochemistry
D Fan, PG Yancey, S Qiu, L Ding, EJ Weeber, MF Linton, S Fazio
Publication Date: 2008-02-12

Variant appearance in text: PCSK9: R357H
PMID: 18197702
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1070G>A p.Arg357His missense_variant 7/12 -
ENST00000490692.1 n.1818-24G>A - intron_variant,non_coding_transcript_variant - 3/7
ENST00000543384.1 c.470G>A p.Arg157His missense_variant 5/10 -
NM_174936.4 c.1070G>A p.Arg357His missense_variant 7/12 -
NR_110451.1 n.729G>A - non_coding_transcript_exon_variant 5/10 -