ABCA1 c.1769G>T ;(p.W590L)

Variant ID: 9-107593329-C-A

NM_005502.3(ABCA1):c.1769G>T;(p.W590L)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Identifying interpretable gene-biomarker associations with functionally informed kernel-based tests in 190,000 exomes.

Nature Communications
Monti, Remo R; Rautenstrauch, Pia P; Ghanbari, Mahsa M; James, Alva Rani AR; Kirchler, Matthias M; Ohler, Uwe U; Konigorski, Stefan S; Lippert, Christoph C
Publication Date: 2022-09-10

Variant appearance in text: ABCA1: W590L
PubMed Link: 36088354
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_32864.pdf
View BVdb publication page



ABCA1 is an extracellular phospholipid translocase.

Nature Communications
Segrest, Jere P JP; Tang, Chongren C; Song, Hyun D HD; Jones, Martin K MK; Davidson, W Sean WS; Aller, Stephen G SG; Heinecke, Jay W JW
Publication Date: 2022-08-16

Variant appearance in text: ABCA1: W590L
PubMed Link: 35974019
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_32437.pdf
View BVdb publication page



Analysis of Multiple Drug Resistance Mechanism in Different Types of Soft Tissue Sarcomas: Assessment of the Expression of ABC-Transporters, MVP, YB-1, and Analysis of Their Correlation with Chemosensitivity of Cancer Cells.

International Journal Of Molecular Sciences
Moiseeva, Natalia I NI; Laletina, Lidia A LA; Fetisov, Timur I TI; Makhmudova, Leyla F LF; Manikaylo, Angelika E AE; Fomina, Liliya Y LY; Burov, Denis A DA; Lesovaya, Ekaterina A EA; Bokhyan, Beniamin Y BY; Zinovieva, Victoria Y VY; Vilkova, Alice S AS; Mekheda, Larisa V LV; Kozlov, Nikolay A NA; Scherbakov, Alexander M AM; Kirilin, Evgeny M EM; Belitsky, Gennady A GA; Yakubovskaya, Marianna G MG; Kirsanov, Kirill I KI
Publication Date: 2022-03-16

Variant appearance in text: ABCA1: W590L
PubMed Link: 35328603
Variant Present in the following documents:
  • ijms-23-03183.pdf
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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs137854496
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 1
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: ABCA1: 1769G>T; Trp590Leu
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



Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Publication Date: 2020-02-11

Variant appearance in text: ABCA1: 1769G>T; Trp590Leu
PubMed Link: 31980526
Variant Present in the following documents:
  • pnas.1909378117.sd01.xlsx, sheet 3
View BVdb publication page



Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

Jama Cardiology
Björnsson, Eythór E; Thorleifsson, Guðmar G; Helgadóttir, Anna A; Guðnason, Thórarinn T; Guðbjartsson, Tómas T; Andersen, Karl K; Grétarsdóttir, Sólveig S; Ólafsson, Ísleifur Í; Tragante, Vinicius V; Ólafsson, Ólafur Hreiðar ÓH; Jónsdóttir, Birna B; Eyjólfsson, Guðmundur I GI; Sigurðardóttir, Ólöf Ó; Thorgeirsson, Guðmundur G; Guðbjartsson, Daníel F DF; Thorsteinsdóttir, Unnur U; Hólm, Hilma H; Stefánsson, Kári K
Publication Date: 2020-01-01

Variant appearance in text: rs137854496
PubMed Link: 31746962
Variant Present in the following documents:
  • jamacardiol-5-13-s001.pdf
View BVdb publication page



Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Journal Of Lipid Research
Geller, Andrew S AS; Polisecki, Eliana Y EY; Diffenderfer, Margaret R MR; Asztalos, Bela F BF; Karathanasis, Sotirios K SK; Hegele, Robert A RA; Schaefer, Ernst J EJ
Publication Date: 2018-12

Variant appearance in text: ABCA1: 1769G>T; W590L
PubMed Link: 30333156
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polygenic determinants in extremes of high-density lipoprotein cholesterol.

Journal Of Lipid Research
Dron, Jacqueline S JS; Wang, Jian J; Low-Kam, Cécile C; Khetarpal, Sumeet A SA; Robinson, John F JF; McIntyre, Adam D AD; Ban, Matthew R MR; Cao, Henian H; Rhainds, David D; Dubé, Marie-Pierre MP; Rader, Daniel J DJ; Lettre, Guillaume G; Tardif, Jean-Claude JC; Hegele, Robert A RA
Publication Date: 2017-11

Variant appearance in text: ABCA1: W590L
PubMed Link: 28870971
Variant Present in the following documents:
  • Main text
  • jlrm079822.pdf
  • 10.1194_M079822_jlr.M079822-1.pdf
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: ABCA1: 1769G>T; W590L; rs137854496
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.

Journal Of Lipid Research
Sadananda, Singh N SN; Foo, Jia Nee JN; Toh, Meng Tiak MT; Cermakova, Lubomira L; Trigueros-Motos, Laia L; Chan, Teddy T; Liany, Herty H; Collins, Jennifer A JA; Gerami, Sima S; Singaraja, Roshni R RR; Hayden, Michael R MR; Francis, Gordon A GA; Frohlich, Jiri J; Khor, Chiea Chuen CC; Brunham, Liam R LR
Publication Date: 2015-10

Variant appearance in text: ABCA1: 1769G>T; W590L
PubMed Link: 26255038
Variant Present in the following documents:
  • Main text
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: W590L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
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: W590L
PubMed Link: 25215231
Variant Present in the following documents:
  • CHOLESTEROL2014-639751.pdf
View BVdb publication page



Do mutations causing low HDL-C promote increased carotid intima-media thickness?

Clinica Chimica Acta; International Journal Of Clinical Chemistry
Miller, Michael M; Rhyne, Jeffrey J; Hong, Seung Ho SH; Friel, Gina G; Dolinar, Christina C; Riley, Ward W
Publication Date: 2007-02

Variant appearance in text: ABCA1: W590L
PubMed Link: 17113061
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: W590L
PubMed Link: 16429166
Variant Present in the following documents:
  • pgen.0010083.pdf
View BVdb publication page