Variant ID: 1-55505640-G-C


This variant was identified in 1 publication


A transient amphipathic helix in the prodomain of PCSK9 facilitates binding to low-density lipoprotein particles.

The Journal Of Biological Chemistry
SK Sarkar, ACY Foo, A Matyas, I Asikhia, T Kosenko, NK Goto, A Vergara-Jaque, TA Lagace
Publication Date: 2020-01-16

Variant appearance in text: PCSK9: A44P
PMID: 31949048
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.130G>C p.Ala44Pro missense_variant 1/12 -
ENST00000452118.2 c.130G>C p.Ala44Pro missense_variant 1/6 -
NM_174936.4 c.130G>C p.Ala44Pro missense_variant 1/12 -