Variant ID: 1-55525219-G-A

NM_174936.3(PCSK9):c.1564G>A;(p.Ala522Thr)

This variant was identified in 3 publications



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar

Publications:

Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.

The Journal Of Biological Chemistry
JS Chorba, AM Galvan, KM Shokat
Publication Date: 2018-02-09

Variant appearance in text: PCSK9: A522T
PMID: 29259136
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: A522T
PMID: 26195630
View BVdb publication page


The M2 module of the Cys-His-rich domain (CHRD) of PCSK9 protein is needed for the extracellular low-density lipoprotein receptor (LDLR) degradation pathway.

The Journal Of Biological Chemistry
YG Saavedra, R Day, NG Seidah
Publication Date: 2012-12-21

Variant appearance in text: PCSK9: A522T
PMID: 23105118
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1564G>A p.Ala522Thr missense_variant 10/12 -
ENST00000490692.1 n.2227+899G>A - intron_variant,non_coding_transcript_variant - 6/7
ENST00000543384.1 c.*111G>A - 3_prime_UTR_variant 8/10 -
NM_174936.4 c.1564G>A p.Ala522Thr missense_variant 10/12 -
NR_110451.1 n.1171G>A - non_coding_transcript_exon_variant 8/10 -