Variant ID: 1-55523068-A-T

NM_174936.3(PCSK9):c.1061A>T;(p.Asn354Ile)

This variant was identified in 3 publications



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

Publications:

Loss-of-function PCSK9 mutants evade the unfolded protein response sensor GRP78 and fail to induce endoplasmic reticulum stress when retained.

The Journal Of Biological Chemistry
P Lebeau, K Platko, AA Al-Hashimi, JH Byun, Š Lhoták, N Holzapfel, G Gyulay, SA Igdoura, DR Cool, B Trigatti, NG Seidah, RC Austin
Publication Date: 2018-05-11

Variant appearance in text: PCSK9: N354I
PMID: 29593095
View BVdb publication page


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: N354I
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: N354I
PMID: 26195630
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1061A>T p.Asn354Ile missense_variant 7/12 -
ENST00000490692.1 n.1818-33A>T - intron_variant,non_coding_transcript_variant - 3/7
ENST00000543384.1 c.461A>T p.Asn154Ile missense_variant 5/10 -
NM_174936.4 c.1061A>T p.Asn354Ile missense_variant 7/12 -
NR_110451.1 n.720A>T - non_coding_transcript_exon_variant 5/10 -