Variant ID: 1-55512250-C-T


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: Q152X
PMID: 27534510
View BVdb publication page

The proprotein convertase subtilisin/kexin type 9 (PCSK9) active site and cleavage sequence differentially regulate protein secretion from proteolysis.

The Journal Of Biological Chemistry
JS Chorba, KM Shokat
Publication Date: 2014-10-17

Variant appearance in text: PCSK9: Q152X
PMID: 25210046
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.454C>T p.Gln152* stop_gained 3/12 -
ENST00000452118.2 c.454C>T p.Gln152* stop_gained 3/6 -
ENST00000543384.1 c.-77-5701C>T - intron_variant - 1/9
NM_174936.4 c.454C>T p.Gln152* stop_gained 3/12 -
NR_110451.1 n.183-5701C>T - intron_variant,non_coding_transcript_variant - 1/9