Variant ID: 1-55512250-CA-TC


This variant was identified in 2 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: Q152S
PMID: 29593095
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: Q152S
PMID: 22875854
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.454_455delinsTC p.Gln152Ser missense_variant 3/12 -
ENST00000452118.2 c.454_455delinsTC p.Gln152Ser missense_variant 3/6 -
ENST00000543384.1 c.-77-5701_-77-5700delinsTC - intron_variant - 1/9
NM_174936.4 c.454_455delinsTC p.Gln152Ser missense_variant 3/12 -
NR_110451.1 n.183-5701_183-5700delinsTC - intron_variant,non_coding_transcript_variant - 1/9