Variant ID: 1-55512250-CA-GC

NM_174936.3(PCSK9):c.454_455delinsGC;(p.Gln152Ala)

This variant was identified in 2 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: Q152A
PMID: 29259136
View BVdb publication page


Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.

The Journal Of Biological Chemistry
S Benjannet, J Hamelin, M Chrétien, NG Seidah
Publication Date: 2012-09-28

Variant appearance in text: PCSK9: Q152A
PMID: 22875854
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.454_455delinsGC p.Gln152Ala missense_variant 3/12 -
ENST00000452118.2 c.454_455delinsGC p.Gln152Ala missense_variant 3/6 -
ENST00000543384.1 c.-77-5701_-77-5700delinsGC - intron_variant - 1/9
NM_174936.4 c.454_455delinsGC p.Gln152Ala missense_variant 3/12 -
NR_110451.1 n.183-5701_183-5700delinsGC - intron_variant,non_coding_transcript_variant - 1/9