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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
-