Variant ID: 1-55505657-G-T

NM_174936.3(PCSK9):c.147G>T;(p.Glu49Asp)

This variant was identified in 1 publication



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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 Chrétien, J Mayne
Publication Date: 2008-07

Variant appearance in text: PCSK9: E49D
PubMed Link: 18498363
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.147G>T p.Glu49Asp missense_variant 1/12 -
ENST00000452118.2 c.147G>T p.Glu49Asp missense_variant 1/6 -
NM_174936.4 c.147G>T p.Glu49Asp missense_variant 1/12 -