Variant ID: 4-68436820-A-G

NM_012108.2(STAP1):c.139A>G;(p.Thr47Ala)

This variant was identified in 4 publications




Publications:


Taking One Step Back in Familial Hypercholesterolemia: STAP1 Does Not Alter Plasma LDL (Low-Density Lipoprotein) Cholesterol in Mice and Humans.

Arteriosclerosis, Thrombosis, And Vascular Biology
N Loaiza, ML Hartgers, LF Reeskamp, JW Balder, A Rimbert, V Bazioti, JC Wolters, M Winkelmeijer, HPG Jansen, GM Dallinga-Thie, A Volta, N Huijkman, M Smit, N Kloosterhuis, M Koster, AF Svendsen, B van de Sluis, GK Hovingh, A Grefhorst, JA Kuivenhoven
Publication Date: 2020-04

Variant appearance in text: STAP1: Thr47Ala
PubMed Link: 31996024
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genes Potentially Associated with Familial Hypercholesterolemia.

Biomolecules
S Mikhailova, D Ivanoshchuk, O Timoshchenko, E Shakhtshneider
Publication Date: 2019-11-29

Variant appearance in text: STAP1: 139A>G; rs793888522
PubMed Link: 31795497
Variant Present in the following documents:
  • Main text
View BVdb publication page



My Approach to the Patient With Familial Hypercholesterolemia.

Mayo Clinic Proceedings
MS Safarova, IJ Kullo
Publication Date: 2016-06

Variant appearance in text: STAP1: Thr47Ala
PubMed Link: 27261867
Variant Present in the following documents:
  • NIHMS854049-supplement-Supplemental.pdf
View BVdb publication page



Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

European Journal Of Human Genetics : Ejhg
I Brænne, M Kleinecke, B Reiz, E Graf, T Strom, T Wieland, M Fischer, T Kessler, C Hengstenberg, T Meitinger, J Erdmann, H Schunkert
Publication Date: 2016-02

Variant appearance in text: STAP1: 139A>G; T47A
PubMed Link: 26036859
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000265404.2 c.139A>G p.Thr47Ala missense_variant 2/9 -
ENST00000396225.1 c.139A>G p.Thr47Ala missense_variant 2/10 -
NM_001317769.2 c.139A>G p.Thr47Ala missense_variant 2/10 -
NM_012108.4 c.139A>G p.Thr47Ala missense_variant 2/9 -