Variant ID: 1-55505671-A-C

NM_174936.3(PCSK9):c.161A>C;(p.Glu54Ala)

This variant was identified in 1 publication



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

Publications:

Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.

The Journal Of Biological Chemistry
QT Le, M Blanchet, NG Seidah, P Labonté
Publication Date: 2015-09-18

Variant appearance in text: PCSK9: E54A
PMID: 26195630
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.161A>C p.Glu54Ala missense_variant 1/12 -
ENST00000452118.2 c.161A>C p.Glu54Ala missense_variant 1/6 -
NM_174936.4 c.161A>C p.Glu54Ala missense_variant 1/12 -
- - TF_binding_site_variant - -