STAP1 c.526C>T ;(p.P176S)

Variant ID: 4-68447185-C-T

NM_012108.2(STAP1):c.526C>T;(p.P176S)

This variant was identified in 9 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: 526C>T; Pro176Ser; rs199787258
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: Pro176Ser
PubMed Link: 36196022
Variant Present in the following documents:
  • Main text
  • JOIM-293-144.pdf
View BVdb publication page



Screening for Familial Hypercholesterolemia in Small Towns: Experience from 11 Brazilian Towns in the Hipercolbrasil Program.

Arquivos Brasileiros De Cardiologia
Jannes, Cinthia Elim CE; Silvino, Júnea Paolucci Paiva JPP; Silva, Pãmela Rodrigues de Souza PRS; Lima, Isabella Ramos IR; Tada, Mauricio Teruo MT; Oliveira, Theo Gremen Mimary TGM; Santos, Raul D RD; Krieger, José Eduardo JE; Pereira, Alexandre da Costa ADC
Publication Date: 2022-04

Variant appearance in text: STAP1: Pro176Ser
PubMed Link: 35137788
Variant Present in the following documents:
  • 0066-782X-abc-118-04-0669.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: STAP1: P176S; rs199787258
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
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: P176S
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
  • fgene-11-01020.pdf
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: STAP1: 526C>T; Pro176Ser
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
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: Pro176Ser; rs199787258
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: 526C>T; rs199787258
PubMed Link: 31795497
Variant Present in the following documents:
  • Main text
  • biomolecules-09-00807.pdf
View BVdb publication page



Evaluation of the role of STAP1 in Familial Hypercholesterolemia.

Scientific Reports
Danyel, Magdalena M; Ott, Claus-Eric CE; Grenkowitz, Thomas T; Salewsky, Bastian B; Hicks, Andrew A AA; Fuchsberger, Christian C; Steinhagen-Thiessen, Elisabeth E; Bobbert, Thomas T; Kassner, Ursula U; Demuth, Ilja I
Publication Date: 2019-08-19

Variant appearance in text: STAP1: Pro176Ser; rs199787258
PubMed Link: 31427613
Variant Present in the following documents:
  • Main text
  • 41598_2019_48402_MOESM1_ESM.pdf
  • 41598_2019_Article_48402.pdf
View BVdb publication page