Variant ID: 1-55505660-C-A

NM_174936.3(PCSK9):c.150C>A;(p.Asp50Glu)

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: D50E
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.150C>A p.Asp50Glu missense_variant 1/12 -
ENST00000452118.2 c.150C>A p.Asp50Glu missense_variant 1/6 -
NM_174936.4 c.150C>A p.Asp50Glu missense_variant 1/12 -