Variant ID: 1-55524261-G-C

NM_174936.3(PCSK9):c.1444G>C;(p.Glu482Gln)

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:

Annexin A2 reduces PCSK9 protein levels via a translational mechanism and interacts with the M1 and M2 domains of PCSK9.

The Journal Of Biological Chemistry
K Ly, YG Saavedra, M Canuel, S Routhier, R Desjardins, J Hamelin, J Mayne, C Lazure, NG Seidah, R Day
Publication Date: 2014-06-20

Variant appearance in text: PCSK9: E482Q
PubMed Link: 24808179
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1444G>C p.Glu482Gln missense_variant 9/12 -
ENST00000490692.1 n.2168G>C - non_coding_transcript_exon_variant 6/8 -
ENST00000543384.1 c.792G>C p.Arg264Ser missense_variant 7/10 -
NM_174936.4 c.1444G>C p.Glu482Gln missense_variant 9/12 -
NR_110451.1 n.1051G>C - non_coding_transcript_exon_variant 7/10 -