Variant ID: 1-55529212-C-A


This variant was identified in 1 publication


Molecular and cellular function of the proprotein convertase subtilisin/kexin type 9 (PCSK9).

Basic Research In Cardiology
R Schulz, KD Schl├╝ter, U Laufs
Publication Date: 2015-03

Variant appearance in text: PCSK9: C678X
PubMed Link: 25600226
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.2034C>A p.Cys678* stop_gained 12/12 -
ENST00000490692.1 n.2580C>A - non_coding_transcript_exon_variant 8/8 -
NM_174936.4 c.2034C>A p.Cys678* stop_gained 12/12 -
NR_110451.1 n.1641C>A - non_coding_transcript_exon_variant 10/10 -