STAP1 c.206T>C ;(p.L69S)

Variant ID: 4-68441116-T-C

NM_012108.2(STAP1):c.206T>C;(p.L69S)

This variant was identified in 6 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: 206T>C; rs938523789
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: Leu69Ser
PubMed Link: 36196022
Variant Present in the following documents:
  • Main text
  • JOIM-293-144.pdf
View BVdb publication page



Mice lacking global Stap1 expression do not manifest hypercholesterolemia.

Bmc Medical Genetics
Kanuri, Babunageswararao B; Fong, Vincent V; Haller, April A; Hui, David Y DY; Patel, Shailendra B SB
Publication Date: 2020-11-23

Variant appearance in text: STAP1: Leu69Ser
PubMed Link: 33228548
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Guo, Qianyun Q; Feng, Xunxun X; Zhou, Yujie Y
Publication Date: 2020

Variant appearance in text: STAP1: L69S
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
  • fgene-11-01020.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: Leu69Ser; rs938523789
PubMed Link: 31996024
Variant Present in the following documents:
  • Main text
  • atv-40-973-s002.pdf
  • atv-40-973-s001.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: 206T>C; rs938523789
PubMed Link: 31795497
Variant Present in the following documents:
  • Main text
  • biomolecules-09-00807.pdf
View BVdb publication page