Variant ID: 1-55524262-A-G

NM_174936.3(PCSK9):c.1445A>G;(p.Glu482Gly)

This variant was identified in 4 publications




Publications:


PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies.

Frontiers In Genetics
NT Tran, S Aslibekyan, HK Tiwari, D Zhi, YJ Sung, SC Hunt, DC Rao, U Broeckel, SE Judd, P Muntner, ST Kent, DK Arnett, MR Irvin
Publication Date: 2015

Variant appearance in text: PCSK9: 1445A>G; E482G; rs141995194
PMID: 25904937
View BVdb publication page



The M2 module of the Cys-His-rich domain (CHRD) of PCSK9 protein is needed for the extracellular low-density lipoprotein receptor (LDLR) degradation pathway.

The Journal Of Biological Chemistry
YG Saavedra, R Day, NG Seidah
Publication Date: 2012-12-21

Variant appearance in text: PCSK9: E482G
PMID: 23105118
View BVdb publication page



Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.

Plos One
K Ding, SJ McDonough, IJ Kullo
Publication Date: 2007-10-31

Variant appearance in text: PCSK9: E482G
PMID: 17971861
View BVdb publication page



A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

American Journal Of Human Genetics
IK Kotowski, A Pertsemlidis, A Luke, RS Cooper, GL Vega, JC Cohen, HH Hobbs
Publication Date: 2006-03

Variant appearance in text: PCSK9: 1445A>G; E482G
PMID: 16465619
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1445A>G p.Glu482Gly missense_variant 9/12 -
ENST00000490692.1 n.2169A>G - non_coding_transcript_exon_variant 6/8 -
ENST00000543384.1 c.793A>G p.Ser265Gly missense_variant 7/10 -
NM_174936.4 c.1445A>G p.Glu482Gly missense_variant 9/12 -
NR_110451.1 n.1052A>G - non_coding_transcript_exon_variant 7/10 -