Variant ID: 1-55512267-C-A


This variant was identified in 7 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: PCSK9: N157K; rs143117125
PMID: 30779729
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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: 471C>A; N157K
PMID: 25904937
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Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.

The Journal Of Clinical Endocrinology And Metabolism
CW Tsai, KE North, A Tin, K Haack, N Franceschini, V Saroja Voruganti, S Laston, Y Zhang, LG Best, JW MacCluer, TH Beaty, A Navas-Acien, WH Kao, BV Howard
Publication Date: 2015-02

Variant appearance in text: N/A
PMID: 25412415
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The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.

The Application Of Clinical Genetics
I De Castro-Orós, M Pocoví, F Civeira
Publication Date: 2010

Variant appearance in text: PCSK9: N157K
PMID: 23776352
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Molecular population genetics of PCSK9: a signature of recent positive selection.

Pharmacogenetics And Genomics
K Ding, IJ Kullo
Publication Date: 2008-03

Variant appearance in text: N/A
PMID: 18300938
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Genetic variation at the PCSK9 locus moderately lowers low-density lipoprotein cholesterol levels, but does not significantly lower vascular disease risk in an elderly population.

E Polisecki, I Peter, M Robertson, AD McMahon, I Ford, C Packard, J Shepherd, JW Jukema, GJ Blauw, RG Westendorp, AJ de Craen, S Trompet, BM Buckley, MB Murphy, JM Ordovas, EJ Schaefer,
Publication Date: 2008-09

Variant appearance in text: N/A
PMID: 18262190
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Self-association of human PCSK9 correlates with its LDLR-degrading activity.

D Fan, PG Yancey, S Qiu, L Ding, EJ Weeber, MF Linton, S Fazio
Publication Date: 2008-02-12

Variant appearance in text: PCSK9: N157K
PMID: 18197702
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.471C>A p.Asn157Lys missense_variant 3/12 -
ENST00000452118.2 c.471C>A p.Asn157Lys missense_variant 3/6 -
ENST00000543384.1 c.-77-5684C>A - intron_variant - 1/9
NM_174936.4 c.471C>A p.Asn157Lys missense_variant 3/12 -
NR_110451.1 n.183-5684C>A - intron_variant,non_coding_transcript_variant - 1/9