Variant ID: 1-55529215-C-T

NM_174936.3(PCSK9):c.2037C>T;(p.Cys679Cys)

This variant was identified in 4 publications



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar

Publications:

Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study.

Plos Genetics
Y Hu, M Graff, J Haessler, S Buyske, SA Bien, R Tao, HM Highland, KK Nishimura, N Zubair, Y Lu, M Verbanck, AT Hilliard, D Klarin, SM Damrauer, YL Ho, , PWF Wilson, KM Chang, PS Tsao, K Cho, CJ O'Donnell, TL Assimes, LE Petty, JE Below, O Dikilitas, DJ Schaid, ML Kosel, IJ Kullo, LJ Rasmussen-Torvik, GP Jarvik, Q Feng, WQ Wei, EB Larson, FD Mentch, B Almoguera, PM Sleiman, LM Raffield, A Correa, LW Martin, M Daviglus, TC Matise, JL Ambite, CS Carlson, R Do, RJF Loos, LR Wilkens, L Le Marchand, C Haiman, DO Stram, LA Hindorff, KE North, C Kooperberg, I Cheng, U Peters
Publication Date: 2020-03-30

Variant appearance in text: N/A
PMID: 32226016
View BVdb publication page


EDEM3 Modulates Plasma Triglyceride Level through Its Regulation of LRP1 Expression.

Iscience
YX Xu, GM Peloso, TH Nagai, T Mizoguchi, A Deik, K Bullock, H Lin, K Musunuru, Q Yang, RS Vasan, RE Gerszten, CB Clish, D Rader, S Kathiresan
Publication Date: 2020-03-11

Variant appearance in text: rs28362286
PMID: 32213464
View BVdb publication page


A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.

Npj Genomic Medicine
MS Safarova, BA Satterfield, X Fan, EE Austin, Z Ye, L Bastarache, N Zheng, MD Ritchie, KM Borthwick, MS Williams, EB Larson, A Scrol, GP Jarvik, DR Crosslin, K Leppig, LJ Rasmussen-Torvik, SA Pendergrass, AC Sturm, B Namjou, AS Shah, RJ Carroll, WK Chung, WQ Wei, Q Feng, CM Stein, DM Roden, TA Manolio, DJ Schaid, JC Denny, SJ Hebbring, M de Andrade, IJ Kullo
Publication Date: 2019

Variant appearance in text: N/A
PMID: 30774981
View BVdb publication page


Replication and fine-mapping of genetic predictors of lipid traits in African-Americans.

Journal Of Human Genetics
Q Feng, WQ Wei, RT Levinson, JD Mosley, CM Stein
Publication Date: 2017-10

Variant appearance in text: rs28362286
PMID: 28539666
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.2037C>T p.Cys679= synonymous_variant 12/12 -
ENST00000490692.1 n.2583C>T - non_coding_transcript_exon_variant 8/8 -
NM_174936.4 c.2037C>T p.Cys679= synonymous_variant 12/12 -
NR_110451.1 n.1644C>T - non_coding_transcript_exon_variant 10/10 -