Variant ID: 1-55509624-G-C

NM_174936.3(PCSK9):c.316G>C;(p.Gly106Arg)

This variant was identified in 6 publications




Publications:


Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.

The Journal Of Biological Chemistry
JS Chorba, AM Galvan, KM Shokat
Publication Date: 2018-02-09

Variant appearance in text: PCSK9: G106R
PMID: 29259136
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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: PCSK9: G106R
PMID: 25412415
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The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, SE Humphries
Publication Date: 2013-06-05

Variant appearance in text: PCSK9: G106R
PMID: 23535506
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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: PCSK9: G106R
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.

Atherosclerosis
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: PCSK9: G106R
PMID: 18262190
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Molecular biology of PCSK9: its role in LDL metabolism.

Trends In Biochemical Sciences
JD Horton, JC Cohen, HH Hobbs
Publication Date: 2007-02

Variant appearance in text: PCSK9: G106R
PMID: 17215125
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.316G>C p.Gly106Arg missense_variant 2/12 -
ENST00000452118.2 c.316G>C p.Gly106Arg missense_variant 2/6 -
ENST00000543384.1 c.-78+3548G>C - intron_variant - 1/9
NM_174936.4 c.316G>C p.Gly106Arg missense_variant 2/12 -
NR_110451.1 n.182+3548G>C - intron_variant,non_coding_transcript_variant - 1/9