Variant ID: 1-55527071-G-A


This variant was identified in 1 publication


Characterisation of de novo mutations in the C-terminal domain of proprotein convertase subtilisin/kexin type 9.

Protein Engineering, Design & Selection : Peds
S Geschwindner, GM Andersson, HG Beisel, S Breuer, C Hallberg, BM Kihlberg, AM Lindqvist, G O'Mahony, AT Plowright, F Raubacher, W Knecht
Publication Date: 2015-05

Variant appearance in text: PCSK9: E569K
PubMed Link: 25744035
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1705G>A p.Glu569Lys missense_variant 11/12 -
ENST00000490692.1 n.2251G>A - non_coding_transcript_exon_variant 7/8 -
ENST00000543384.1 c.*252G>A - 3_prime_UTR_variant 9/10 -
NM_174936.4 c.1705G>A p.Glu569Lys missense_variant 11/12 -
NR_110451.1 n.1312G>A - non_coding_transcript_exon_variant 9/10 -