STAP1 c.139A>G ;(p.T47A)

Variant ID: 4-68436820-A-G

NM_012108.2(STAP1):c.139A>G;(p.T47A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Role of B Lymphocytes in the Pathogenesis of NAFLD: A 2022 Update.

International Journal Of Molecular Sciences
Deng, Chu-Jun CJ; Lo, Tak-Ho TH; Chan, Ka-Ying KY; Li, Xiang X; Wu, Meng-Yao MY; Xiang, Zou Z; Wong, Chi-Ming CM
Publication Date: 2022-10-16

Variant appearance in text: STAP1: 139A>G
PubMed Link: 36293233
Variant Present in the following documents:
  • ijms-23-12376.pdf
View BVdb publication page



Genetic and molecular architecture of familial hypercholesterolemia.

Journal Of Internal Medicine
Abifadel, Marianne M; Boileau, Catherine C
Publication Date: 2022-10-04

Variant appearance in text: STAP1: Thr47Ala
PubMed Link: 36196022
Variant Present in the following documents:
  • Main text
  • JOIM-293-144.pdf
View BVdb publication page



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
Loaiza, Natalia N; Hartgers, Merel L ML; Reeskamp, Laurens F LF; Balder, Jan-Willem JW; Rimbert, Antoine A; Bazioti, Venetia V; Wolters, Justina C JC; Winkelmeijer, Maaike M; Jansen, Hans P G HPG; Dallinga-Thie, Geesje M GM; Volta, Andrea A; Huijkman, Nicolette N; Smit, Marieke M; Kloosterhuis, Niels N; Koster, Mirjam M; Svendsen, Arthur F AF; van de Sluis, Bart B; Hovingh, G Kees GK; Grefhorst, Aldo A; Kuivenhoven, Jan Albert JA
Publication Date: 2020-04

Variant appearance in text: STAP1: Thr47Ala; rs793888522
PubMed Link: 31996024
Variant Present in the following documents:
  • Main text
  • atv-40-973-s001.pdf
  • atv-40-973-s002.pdf
  • atv-40-973.pdf
View BVdb publication page



Genes Potentially Associated with Familial Hypercholesterolemia.

Biomolecules
Mikhailova, Svetlana S; Ivanoshchuk, Dinara D; Timoshchenko, Olga O; Shakhtshneider, Elena E
Publication Date: 2019-11-29

Variant appearance in text: STAP1: 139A>G; rs793888522
PubMed Link: 31795497
Variant Present in the following documents:
  • Main text
  • biomolecules-09-00807.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
Brænne, Ingrid I; Kleinecke, Mariana M; Reiz, Benedikt B; Graf, Elisabeth E; Strom, Tim T; Wieland, Thomas T; Fischer, Marcus M; Kessler, Thorsten T; Hengstenberg, Christian C; Meitinger, Thomas T; Erdmann, Jeanette J; Schunkert, Heribert H
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