Variant ID: 1-55505622-TA-CG


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: 2020-02-21

Variant appearance in text: PCSK9: Y38R
PubMed Link: 31949048
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.112_113delinsCG p.Tyr38Arg missense_variant 1/12 -
ENST00000452118.2 c.112_113delinsCG p.Tyr38Arg missense_variant 1/6 -
NM_174936.4 c.112_113delinsCG p.Tyr38Arg missense_variant 1/12 -