ABCA1 c.2786C>T ;(p.T929I)

Variant ID: 9-107584819-G-A

NM_005502.3(ABCA1):c.2786C>T;(p.T929I)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: ABCA1: T929I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Increased Systemic and Plaque Inflammation in ABCA1 Mutation Carriers With Attenuation by Statins.

Arteriosclerosis, Thrombosis, And Vascular Biology
Bochem, Andrea E AE; van der Valk, Fleur M FM; Tolani, Sonia S; Stroes, Erik S ES; Westerterp, Marit M; Tall, Alan R AR
Publication Date: 2015-07

Variant appearance in text: ABCA1: Thr929Ile
PubMed Link: 26109739
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Comprehensive In Silico Analysis of the Functional and Structural Impact of Nonsynonymous SNPs in the ABCA1 Transporter Gene.

Cholesterol
Marín-Martín, Francisco R FR; Soler-Rivas, Cristina C; Martín-Hernández, Roberto R; Rodriguez-Casado, Arantxa A
Publication Date: 2014

Variant appearance in text: ABCA1: T929I
PubMed Link: 25215231
Variant Present in the following documents:
  • CHOLESTEROL2014-639751.pdf
View BVdb publication page



Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.

The Journal Of Biological Chemistry
Quazi, Faraz F; Molday, Robert S RS
Publication Date: 2013-11-29

Variant appearance in text: ABCA1: T929I
PubMed Link: 24097981
Variant Present in the following documents:
  • Main text
View BVdb publication page



The mutational landscape of lethal castration-resistant prostate cancer.

Nature
Grasso, Catherine S CS; Wu, Yi-Mi YM; Robinson, Dan R DR; Cao, Xuhong X; Dhanasekaran, Saravana M SM; Khan, Amjad P AP; Quist, Michael J MJ; Jing, Xiaojun X; Lonigro, Robert J RJ; Brenner, J Chad JC; Asangani, Irfan A IA; Ateeq, Bushra B; Chun, Sang Y SY; Siddiqui, Javed J; Sam, Lee L; Anstett, Matt M; Mehra, Rohit R; Prensner, John R JR; Palanisamy, Nallasivam N; Ryslik, Gregory A GA; Vandin, Fabio F; Raphael, Benjamin J BJ; Kunju, Lakshmi P LP; Rhodes, Daniel R DR; Pienta, Kenneth J KJ; Chinnaiyan, Arul M AM; Tomlins, Scott A SA
Publication Date: 2012-07-12

Variant appearance in text: ABCA1: T929I
PubMed Link: 22722839
Variant Present in the following documents:
  • NIHMS368879-supplement-2.xlsx, sheet 4
View BVdb publication page



Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene.

Plos Genetics
Brunham, Liam R LR; Singaraja, Roshni R RR; Pape, Terry D TD; Kejariwal, Anish A; Thomas, Paul D PD; Hayden, Michael R MR
Publication Date: 2005-12

Variant appearance in text: ABCA1: T929I
PubMed Link: 16429166
Variant Present in the following documents:
  • pgen.0010083.pdf
View BVdb publication page