ABCA1 c.2328G>T ;(p.K776N)

Variant ID: 9-107589238-C-A

NM_005502.3(ABCA1):c.2328G>T;(p.K776N)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: ABCA1: K776N
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Elucidating the Structural Features of ABCA1 in its Heterogeneous Membrane Environment.

Frontiers In Molecular Biosciences
Sunidhi, S S; Sacher, Sukriti S; Atul, ; Garg, Parth P; Ray, Arjun A
Publication Date: 2021

Variant appearance in text: ABCA1: K776N
PubMed Link: 35155567
Variant Present in the following documents:
  • Main text
  • fmolb-08-803078.pdf
View BVdb publication page



Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.

Journal Of Cardiovascular Development And Disease
Semenova, Anna E AE; Sergienko, Igor V IV; García-Giustiniani, Diego D; Monserrat, Lorenzo L; Popova, Anna B AB; Nozadze, Diana N DN; Ezhov, Marat V MV
Publication Date: 2020-05-14

Variant appearance in text: ABCA1: Lys776Asn
PubMed Link: 32423031
Variant Present in the following documents:
  • Main text
  • jcdd-07-00016.pdf
View BVdb publication page



Association of ATP-Binding Cassette Transporter A1 Gene Polymorphisms in Type 2 Diabetes Mellitus among Malaysians.

Journal Of Diabetes Research
Haghvirdizadeh, Polin P; Ramachandran, Vasudevan V; Etemad, Ali A; Heidari, Farzad F; Ghodsian, Nooshin N; Bin Ismail, Norzian N; Ismail, Patimah P
Publication Date: 2015

Variant appearance in text: ABCA1: K776N
PubMed Link: 26451383
Variant Present in the following documents:
  • Main text
  • JDR2015-289846.pdf
View BVdb publication page



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: K776N
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



De novo mutations in moderate or severe intellectual disability.

Plos Genetics
Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2014-10

Variant appearance in text: ABCA1: K776N
PubMed Link: 25356899
Variant Present in the following documents:
  • pgen.1004772.s004.xlsx, sheet 31
View BVdb publication page



Dyslipidemia and diabetes: reciprocal impact of impaired lipid metabolism and Beta-cell dysfunction on micro- and macrovascular complications.

The Review Of Diabetic Studies : Rds
Bardini, Gianluca G; Rotella, Carlo M CM; Giannini, Stefano S
Publication Date: 2012

Variant appearance in text: ABCA1: K776N
PubMed Link: 23403704
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family.

Circulation. Cardiovascular Genetics
Reddy, M V Prasad Linga MV; Iatan, Iulia I; Weissglas-Volkov, Daphna D; Nikkola, Elina E; Haas, Blake E BE; Juvonen, Miina M; Ruel, Isabelle I; Ruel, Miina Juvonen Isabelle MJ; Sinsheimer, Janet S JS; Genest, Jacques J; Pajukanta, Päivi P
Publication Date: 2012-10-01

Variant appearance in text: ABCA1: K776N
PubMed Link: 22923419
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cholesterol in islet dysfunction and type 2 diabetes.

The Journal Of Clinical Investigation
Brunham, Liam R LR; Kruit, Janine K JK; Verchere, C Bruce CB; Hayden, Michael R MR
Publication Date: 2008-02

Variant appearance in text: ABCA1: K776N
PubMed Link: 18246189
Variant Present in the following documents:
  • Main text
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: K776N
PubMed Link: 16429166
Variant Present in the following documents:
  • pgen.0010083.pdf
View BVdb publication page



Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population.

The Journal Of Clinical Investigation
Frikke-Schmidt, Ruth R; Nordestgaard, Børge G BG; Jensen, Gorm B GB; Tybjaerg-Hansen, Anne A
Publication Date: 2004-11

Variant appearance in text: ABCA1: K776N
PubMed Link: 15520867
Variant Present in the following documents:
  • Main text
View BVdb publication page