Variant ID: 1-55505654-G-C

NM_174936.3(PCSK9):c.144G>C;(p.Glu48Asp)

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: E48D
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.144G>C p.Glu48Asp missense_variant 1/12 -
ENST00000452118.2 c.144G>C p.Glu48Asp missense_variant 1/6 -
NM_174936.4 c.144G>C p.Glu48Asp missense_variant 1/12 -