Variant ID: 11-117075566-C-T

NM_001001522.1(TAGLN):c.*491C>T

This variant was identified in 12 publications




Publications:


Multiple genotype-phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population.

Human Genomics
S Moon, Y Lee, S Won, J Lee
Publication Date: 2018-11-01

Variant appearance in text: rs508487
PubMed Link: 30382898
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.

Nature Communications
L Southam, A Gilly, D Süveges, AE Farmaki, J Schwartzentruber, I Tachmazidou, A Matchan, NW Rayner, E Tsafantakis, M Karaleftheri, Y Xue, G Dedoussis, E Zeggini
Publication Date: 2017-05-26

Variant appearance in text: rs508487
PubMed Link: 28548082
Variant Present in the following documents:
  • ncomms15606-s1.pdf
View BVdb publication page



The impact of rare and low-frequency genetic variants in common disease.

Genome Biology
L Bomba, K Walter, N Soranzo
Publication Date: 2017-04-27

Variant appearance in text: rs508487
PubMed Link: 28449691
Variant Present in the following documents:
  • 13059_2017_1212_MOESM1_ESM.xlsx
View BVdb publication page



Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits.

American Journal Of Human Genetics
M Civelek, Y Wu, C Pan, CK Raulerson, A Ko, A He, C Tilford, NK Saleem, A Stančáková, LJ Scott, C Fuchsberger, HM Stringham, AU Jackson, N Narisu, PS Chines, KS Small, J Kuusisto, BW Parks, P Pajukanta, T Kirchgessner, FS Collins, PS Gargalovic, M Boehnke, M Laakso, KL Mohlke, AJ Lusis
Publication Date: 2017-03-02

Variant appearance in text: rs508487
PubMed Link: 28257690
Variant Present in the following documents:
  • mmc3.xlsx
View BVdb publication page



Novel genetic loci associated with long-term deterioration in blood lipid concentrations and coronary artery disease in European adults.

International Journal Of Epidemiology
TV Varga, A Kurbasic, M Aine, P Eriksson, A Ali, G Hindy, S Gustafsson, J Luan, D Shungin, Y Chen, CA Schulz, PM Nilsson, G Hallmans, I Barroso, P Deloukas, C Langenberg, RA Scott, NJ Wareham, L Lind, E Ingelsson, O Melander, M Orho-Melander, F Renström, PW Franks
Publication Date: 2017-08-01

Variant appearance in text: rs508487
PubMed Link: 27864399
Variant Present in the following documents:
  • dyw245_supplementary_method_2.docx
  • dyw245_supplementary_table_7.xlsx
View BVdb publication page



INTEGRATING CLINICAL LABORATORY MEASURES AND ICD-9 CODE DIAGNOSES IN PHENOME-WIDE ASSOCIATION STUDIES.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
A Verma, JB Leader, SS Verma, A Frase, J Wallace, S Dudek, DR Lavage, CV Van Hout, FE Dewey, J Penn, A Lopez, JD Overton, DJ Carey, DH Ledbetter, HL Kirchner, MD Ritchie, SA Pendergrass
Publication Date: 2016

Variant appearance in text: rs508487
PubMed Link: 26776183
Variant Present in the following documents:
  • NIHMS742521-supplement-2.pdf
View BVdb publication page



Burden of disease variants in participants of the Long Life Family Study.

Aging
M Stevenson, H Bae, N Schupf, S Andersen, Q Zhang, T Perls, P Sebastiani
Publication Date: 2015-02

Variant appearance in text: rs508487
PubMed Link: 25664523
Variant Present in the following documents:
  • aging-07-0123-s001.docx
View BVdb publication page



Is there a link between proprotein convertase PC7 activity and human lipid homeostasis?

Febs Open Bio
J Guillemot, R Essalmani, J Hamelin, NG Seidah
Publication Date: 2014

Variant appearance in text: rs508487
PubMed Link: 25349778
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiple associated variants increase the heritability explained for plasma lipids and coronary artery disease.

Circulation. Cardiovascular Genetics
H Tada, HH Won, O Melander, J Yang, GM Peloso, S Kathiresan
Publication Date: 2014-10

Variant appearance in text: rs508487
PubMed Link: 25170055
Variant Present in the following documents:
  • NIHMS664832-supplement-supplement.doc
View BVdb publication page



Single nucleotide polymorphisms with cis-regulatory effects on long non-coding transcripts in human primary monocytes.

Plos One
JC Almlöf, P Lundmark, A Lundmark, B Ge, T Pastinen, , AH Goodall, F Cambien, P Deloukas, WH Ouwehand, AC Syvänen
Publication Date: 2014

Variant appearance in text: rs508487
PubMed Link: 25025429
Variant Present in the following documents:
  • pone.0102612.s006.docx
View BVdb publication page



Small dense low-density lipoprotein-cholesterol concentrations predict risk for coronary heart disease: the Atherosclerosis Risk In Communities (ARIC) study.

Arteriosclerosis, Thrombosis, And Vascular Biology
RC Hoogeveen, JW Gaubatz, W Sun, RC Dodge, JR Crosby, J Jiang, D Couper, SS Virani, S Kathiresan, E Boerwinkle, CM Ballantyne
Publication Date: 2014-05

Variant appearance in text: rs508487
PubMed Link: 24558110
Variant Present in the following documents:
  • Main text
  • NIHMS567604-supplement-Methods_and_Material.pdf
  • NIHMS567604-supplement-Supplemental_material.pdf
View BVdb publication page



Genetics of the first seven proprotein convertase enzymes in health and disease.

Current Genomics
H Turpeinen, Z Ortutay, M Pesu
Publication Date: 2013-11

Variant appearance in text: rs508487
PubMed Link: 24396277
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000320934.3 c.*1147G>A - 3_prime_UTR_variant 17/17 -
NM_001001522.2 c.*491C>T - 3_prime_UTR_variant 5/5 -
NM_003186.5 c.*491C>T - 3_prime_UTR_variant 5/5 -
NM_004716.4 c.*1147G>A - 3_prime_UTR_variant 17/17 -