Variant ID: 1-55524261-GA-AG

NM_174936.3(PCSK9):c.1444_1445delinsAG;(p.Glu482Arg)

This variant was identified in 1 publication




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: E482R
PMID: 24808179
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1444_1445delinsAG p.Glu482Arg missense_variant 9/12 -
ENST00000490692.1 n.2168_2169delinsAG - non_coding_transcript_exon_variant 6/8 -
ENST00000543384.1 c.792_793delinsAG p.Ser265Gly missense_variant 7/10 -
NM_174936.4 c.1444_1445delinsAG p.Glu482Arg missense_variant 9/12 -
NR_110451.1 n.1051_1052delinsAG - non_coding_transcript_exon_variant 7/10 -