Variant ID: 1-55523779-C-A

NM_174936.3(PCSK9):c.1251C>A;(p.His417Gln)

This variant was identified in 5 publications




Publications:


Identifying individual risk rare variants using protein structure guided local tests (POINT).

Plos Computational Biology
R Marceau West, W Lu, DM Rotroff, MA Kuenemann, SM Chang, MC Wu, MJ Wagner, JB Buse, AA Motsinger-Reif, D Fourches, JY Tzeng
Publication Date: 2019-02

Variant appearance in text: rs143275858
PMID: 30779729
View BVdb publication page



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: 1251C>A; H417Q; rs143275858
PMID: 25904937
View BVdb publication page



Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations.

Lipids In Health And Disease
J Mayne, TC Ooi, A Raymond, M Cousins, L Bernier, T Dewpura, F Sirois, M Mbikay, J Davignon, M Chr├ętien
Publication Date: 2013-05-10

Variant appearance in text: PCSK9: H417Q
PMID: 23663650
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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: N/A
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: 1251C>A; H417Q
PMID: 16465619
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1251C>A p.His417Gln missense_variant 8/12 -
ENST00000490692.1 n.1975C>A - non_coding_transcript_exon_variant 5/8 -
ENST00000543384.1 c.651C>A p.His217Gln missense_variant 6/10 -
NM_174936.4 c.1251C>A p.His417Gln missense_variant 8/12 -
NR_110451.1 n.910C>A - non_coding_transcript_exon_variant 6/10 -