Variant ID: 1-55512250-CAG-AAC


This variant was identified in 2 publications


Point mutations at the catalytic site of PCSK9 inhibit folding, autoprocessing, and interaction with the LDL receptor.

Protein Science : A Publication Of The Protein Society
CW Garvie, CV Fraley, NH Elowe, EK Culyba, CT Lemke, BK Hubbard, VK Kaushik, DS Daniels
Publication Date: 2016-11

Variant appearance in text: PCSK9: Q152N
PMID: 27534510
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 Chr├ętien, NG Seidah
Publication Date: 2012-09-28

Variant appearance in text: PCSK9: Q152N
PMID: 22875854
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.454_456delinsAAC p.Gln152Asn missense_variant 3/12 -
ENST00000452118.2 c.454_456delinsAAC p.Gln152Asn missense_variant 3/6 -
ENST00000543384.1 c.-77-5701_-77-5699delinsAAC - intron_variant - 1/9
NM_174936.4 c.454_456delinsAAC p.Gln152Asn missense_variant 3/12 -
NR_110451.1 n.183-5701_183-5699delinsAAC - intron_variant,non_coding_transcript_variant - 1/9