Variant ID: 1-55529247-A-C

NM_174936.3(PCSK9):c.2069A>C;(p.Glu690Ala)

This variant was identified in 1 publication




Publications:


PCSK9 is phosphorylated by a Golgi casein kinase-like kinase ex vivo and circulates as a phosphoprotein in humans.

The Febs Journal
T Dewpura, A Raymond, J Hamelin, NG Seidah, M Mbikay, M Chr├ętien, J Mayne
Publication Date: 2008-07

Variant appearance in text: PCSK9: E690A
PubMed Link: 18498363
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.2069A>C p.Glu690Ala missense_variant 12/12 -
ENST00000490692.1 n.2615A>C - non_coding_transcript_exon_variant 8/8 -
NM_174936.4 c.2069A>C p.Glu690Ala missense_variant 12/12 -
NR_110451.1 n.1676A>C - non_coding_transcript_exon_variant 10/10 -