Variant ID: 1-55527213-C-T


This variant was identified in 1 publication


The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.

Pharmacological Reviews
NG Seidah, M Abifadel, S Prost, C Boileau, A Prat
Publication Date: 2017-01

Variant appearance in text: PCSK9: Pro616Leu
PubMed Link: 27920219
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1847C>T p.Pro616Leu missense_variant 11/12 -
ENST00000490692.1 n.2393C>T - non_coding_transcript_exon_variant 7/8 -
ENST00000543384.1 c.*394C>T - 3_prime_UTR_variant 9/10 -
NM_174936.4 c.1847C>T p.Pro616Leu missense_variant 11/12 -
NR_110451.1 n.1454C>T - non_coding_transcript_exon_variant 9/10 -