ABCA1 c.656G>A ;(p.R219K)

Variant ID: 9-107620867-C-T

NM_005502.3(ABCA1):c.656G>A;(p.R219K)

This variant was identified in 171 publications

View GRCh38 version.




Publications:


Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease.

Journal Of Clinical Medicine
Barbosa-Gouveia, Sofía S; Fernández-Crespo, Silvia S; Lazaré-Iglesias, Héctor H; González-Quintela, Arturo A; Vázquez-Agra, Néstor N; Hermida-Ameijeiras, Álvaro Á
Publication Date: 2023-03-30

Variant appearance in text: ABCA1: R219K; rs2230806
PubMed Link: 37048678
Variant Present in the following documents:
  • jcm-12-02596.pdf
View BVdb publication page



Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: ABCA1: R219K
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



An AI-guided screen identifies probucol as an enhancer of mitophagy through modulation of lipid droplets.

Plos Biology
Moskal, Natalia N; Visanji, Naomi P NP; Gorbenko, Olena O; Narasimhan, Vijay V; Tyrrell, Hannah H; Nash, Jess J; Lewis, Peter N PN; McQuibban, G Angus GA
Publication Date: 2023-03

Variant appearance in text: ABCA1: R219K
PubMed Link: 36862640
Variant Present in the following documents:
  • Main text
  • pbio.3001977.pdf
View BVdb publication page



Association between Genetic Variants and Peripheral Neuropathy in Patients with NSCLC Treated with First-Line Platinum-Based Therapy.

Genes
de Jong, Corine C; Herder, Gerarda J M GJM; van Haarlem, Simone W A SWA; van der Meer, Femke S FS; van Lindert, Anne S R ASR; Ten Heuvel, Alexandra A; Brouwer, Jan J; Egberts, Toine C G TCG; Deneer, Vera H M VHM
Publication Date: 2023-01-07

Variant appearance in text: rs2230806
PubMed Link: 36672910
Variant Present in the following documents:
  • Main text
  • genes-14-00170.pdf
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: ABCA1: R219K; rs2230806
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Linking single nucleotide polymorphisms to signaling blueprints in abdominal aortic aneurysms.

Scientific Reports
Lim, Chrysania C; Pratama, Muhammad Yogi MY; Rivera, Cristobal C; Silvestro, Michele M; Tsao, Philip S PS; Maegdefessel, Lars L; Gallagher, Katherine A KA; Maldonado, Thomas T; Ramkhelawon, Bhama B
Publication Date: 2022-12-05

Variant appearance in text: rs2230806
PubMed Link: 36470918
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_25144.pdf
View BVdb publication page



Polymorphic Variants of AGT, ABCA1, and CYBA Genes Influence the Survival of Patients with Coronary Artery Disease: A Prospective Cohort Study.

Genes
Balcerzyk-Matić, Anna A; Nowak, Tomasz T; Mizia-Stec, Katarzyna K; Iwanicka, Joanna J; Iwanicki, Tomasz T; Bańka, Paweł P; Jarosz, Alicja A; Filipecki, Artur A; Żak, Iwona I; Krauze, Jolanta J; Niemiec, Paweł P
Publication Date: 2022-11-18

Variant appearance in text: ABCA1: R219K; rs2230806
PubMed Link: 36421822
Variant Present in the following documents:
  • Main text
  • genes-13-02148.pdf
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: ABCA1: 656G>A; R219K; rs2230806
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Crosstalk between high-density lipoproteins and endothelial cells in health and disease: Insights into sex-dependent modulation.

Frontiers In Cardiovascular Medicine
Dietrich, Elisa E; Jomard, Anne A; Osto, Elena E
Publication Date: 2022

Variant appearance in text: rs2230806
PubMed Link: 36304545
Variant Present in the following documents:
  • Main text
  • fcvm-09-989428.pdf
View BVdb publication page



Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Frontiers In Cardiovascular Medicine
Liu, Yu-Xing YX; Yu, Rong R; Sheng, Yue Y; Fan, Liang-Liang LL; Deng, Yao Y
Publication Date: 2022

Variant appearance in text: ABCA1: 656G>A; Arg219Lys; rs2230806
PubMed Link: 36277747
Variant Present in the following documents:
  • Data_Sheet_1.xls, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: ABCA1: R219K
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association
Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J
Publication Date: 2022-10-04

Variant appearance in text: rs2230806
PubMed Link: 36193932
Variant Present in the following documents:
  • JAH3-11-e025245.pdf
View BVdb publication page



Genetic and Epigenetic Regulation of Lipoxygenase Pathways and Reverse Cholesterol Transport in Atherogenesis.

Genes
Kotlyarov, Stanislav S
Publication Date: 2022-08-18

Variant appearance in text: ABCA1: r219k
PubMed Link: 36011386
Variant Present in the following documents:
  • Main text
  • genes-13-01474.pdf
View BVdb publication page



Personalized Management and Treatment of Alzheimer's Disease.

Life (Basel, Switzerland)
Cacabelos, Ramón R; Naidoo, Vinogran V; Martínez-Iglesias, Olaia O; Corzo, Lola L; Cacabelos, Natalia N; Pego, Rocío R; Carril, Juan C JC
Publication Date: 2022-03-21

Variant appearance in text: rs2230806
PubMed Link: 35330211
Variant Present in the following documents:
  • Main text
  • life-12-00460.pdf
View BVdb publication page



Solving neurodegeneration: common mechanisms and strategies for new treatments.

Molecular Neurodegeneration
Wareham, Lauren K LK; Liddelow, Shane A SA; Temple, Sally S; Benowitz, Larry I LI; Di Polo, Adriana A; Wellington, Cheryl C; Goldberg, Jeffrey L JL; He, Zhigang Z; Duan, Xin X; Bu, Guojun G; Davis, Albert A AA; Shekhar, Karthik K; Torre, Anna La A; Chan, David C DC; Canto-Soler, M Valeria MV; Flanagan, John G JG; Subramanian, Preeti P; Rossi, Sharyn S; Brunner, Thomas T; Bovenkamp, Diane E DE; Calkins, David J DJ
Publication Date: 2022-03-21

Variant appearance in text: rs2230806
PubMed Link: 35313950
Variant Present in the following documents:
  • 13024_2022_Article_524.pdf
View BVdb publication page



Genetic Variants and Their Associations to Type 2 Diabetes Mellitus Complications in the United Arab Emirates.

Frontiers In Endocrinology
ElHajj Chehadeh, Sarah S; Sayed, Noura S NS; Abdelsamad, Hanin S HS; Almahmeed, Wael W; Khandoker, Ahsan H AH; Jelinek, Herbert F HF; Alsafar, Habiba S HS
Publication Date: 2021

Variant appearance in text: rs2230806
PubMed Link: 35069435
Variant Present in the following documents:
  • Main text
  • fendo-12-751885.pdf
View BVdb publication page



Assessment of genetic polymorphism associated with ATP-binding cassette transporter A1 (ABCA1) gene and fluctuations in serum lipid profile levels in patients with coronary artery disease.

Saudi Pharmaceutical Journal : Spj : The Official Publication Of The Saudi Pharmaceutical Society
Bogari, Neda M NM; Babalghith, Ahmad O AO; Bouazzaoui, Abdellatif A; Aljohani, Ashwag A; Dannoun, Anas A; Elkhateeb, Osama O; Amin, Amr A AA; Bogari, Mazin K MK; Mazhar, Abdulbari A AA; Porqueddu, Massimo M; Khan, Imran Ali IA
Publication Date: 2021-12

Variant appearance in text: ABCA1: R219K; rs2230806
PubMed Link: 35002384
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Common R219K Variant of ATP-Binding Cassette Transporter A1 Gene Alters Atherometabolic Traits in Pregnant Women With Gestational Diabetes Mellitus.

Frontiers In Endocrinology
Tang, Fangmei F; Guan, Linbo L; Liu, Xinghui X; Fan, Ping P; Zhou, Mi M; Wu, Yujie Y; Liu, Rui R; Liu, Yu Y; Liu, Sixu S; Li, Dehua D; Bai, Huai H
Publication Date: 2021

Variant appearance in text: ABCA1: R219K; rs2230806
PubMed Link: 34975757
Variant Present in the following documents:
  • Main text
  • fendo-12-782453.pdf
View BVdb publication page



Genomic Variants and Multilevel Regulation of ABCA1, ABCG1, and SCARB1 Expression in Atherogenesis.

Journal Of Cardiovascular Development And Disease
Rozhkova, Alexandra V AV; Dmitrieva, Veronika G VG; Nosova, Elena V EV; Dergunov, Alexander D AD; Limborska, Svetlana A SA; Dergunova, Liudmila V LV
Publication Date: 2021-12-02

Variant appearance in text: ABCA1: R219K; rs2230806
PubMed Link: 34940525
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic Variants and Multilevel Regulation of ABCA1, ABCG1, and SCARB1 Expression in Atherogenesis.

Journal Of Cardiovascular Development And Disease
Rozhkova, Alexandra V AV; Dmitrieva, Veronika G VG; Nosova, Elena V EV; Dergunov, Alexander D AD; Limborska, Svetlana A SA; Dergunova, Liudmila V LV
Publication Date: 2021-12-02

Variant appearance in text: ABCA1: R219K; rs2230806
PubMed Link: 34940525
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology
Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC
Publication Date: 2021

Variant appearance in text: ABCA1: R219K
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page



Impact of Genetic Polymorphism on Response to Therapy in Non-Alcoholic Fatty Liver Disease.

Nutrients
Martínez-Montoro, José Ignacio JI; Cornejo-Pareja, Isabel I; Gómez-Pérez, Ana María AM; Tinahones, Francisco J FJ
Publication Date: 2021-11-15

Variant appearance in text: rs2230806
PubMed Link: 34836332
Variant Present in the following documents:
  • Main text
  • nutrients-13-04077.pdf
View BVdb publication page



Association between the ABCA1 (R219K) polymorphism and lipid profiles: a meta-analysis.

Scientific Reports
Shi, Zhangyan Z; Tian, Yajie Y; Zhao, Ze Z; Wu, Yufei Y; Hu, Xiuxia X; Li, Junlin J; Chen, Qianliang Q; Wang, Yan Y; An, Caiyan C; Zhang, Kejin K
Publication Date: 2021-11-05

Variant appearance in text: ABCA1: R219K; rs2230806
PubMed Link: 34741058
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_961.pdf
  • 41598_2021_961_MOESM1_ESM.pdf
View BVdb publication page



Association between the ABCA1 (R219K) polymorphism and lipid profiles: a meta-analysis.

Scientific Reports
Shi, Zhangyan Z; Tian, Yajie Y; Zhao, Ze Z; Wu, Yufei Y; Hu, Xiuxia X; Li, Junlin J; Chen, Qianliang Q; Wang, Yan Y; An, Caiyan C; Zhang, Kejin K
Publication Date: 2021-11-05

Variant appearance in text: ABCA1: R219K; rs2230806
PubMed Link: 34741058
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_961.pdf
  • 41598_2021_961_MOESM1_ESM.pdf
View BVdb publication page



Association between ABCA1 Gene Polymorphisms and Plasma Lipid Concentration: A Systematic Review and Meta-Analysis.

Journal Of Personalized Medicine
Shim, Sun-Young SY; Yoon, Ha-Young HY; Yee, Jeong J; Han, Ji-Min JM; Gwak, Hye-Sun HS
Publication Date: 2021-09-03

Variant appearance in text: ABCA1: R219K
PubMed Link: 34575660
Variant Present in the following documents:
  • jpm-11-00883.pdf
View BVdb publication page



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: rs2230806
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 1
View BVdb publication page



The effect of CYP7B1 polymorphisms on the risk of coronary heart disease in Hainan Han population.

Bmc Medical Genomics
Liang, Tiebiao T; Zhang, Xianbo X; Liang, Anshan A; Wu, Haiqing H; Wang, Qi Q; He, Jun J; Long, Ming M; Jin, Tianbo T
Publication Date: 2021-09-07

Variant appearance in text: ABCA1: R219K
PubMed Link: 34493281
Variant Present in the following documents:
  • 12920_2021_Article_1067.pdf
View BVdb publication page



Coronary Artery Disease: Association Study of 5 Loci with Angiographic Indices of Disease Severity.

Disease Markers
Bogari, Neda M NM; Allam, Reem M RM; Bouazzaoui, Abdellatif A; Elkhateeb, Osama O; Porqueddu, Massimo M; Colombo, Gualtiero I GI
Publication Date: 2021

Variant appearance in text: ABCA1: R219K; rs2230806
PubMed Link: 34336004
Variant Present in the following documents:
  • Main text
  • DM2021-5522539.pdf
View BVdb publication page



Cannabinoid Hyperemesis Syndrome Survey and Genomic Investigation.

Cannabis And Cannabinoid Research
Russo, Ethan B EB; Spooner, Chris C; May, Len L; Leslie, Ryan R; Whiteley, Venetia L VL
Publication Date: 2022-06

Variant appearance in text: rs2230806
PubMed Link: 34227878
Variant Present in the following documents:
  • Main text
  • can.2021.0046.pdf
View BVdb publication page



Genetic polymorphisms associated with obesity in the Arab world: a systematic review.

International Journal Of Obesity (2005)
Younes, Salma S; Ibrahim, Amal A; Al-Jurf, Rana R; Zayed, Hatem H
Publication Date: 2021-09

Variant appearance in text: ABCA1: R219K; rs2230806
PubMed Link: 34131278
Variant Present in the following documents:
  • Main text
  • 41366_2021_Article_867.pdf
  • 41366_2021_867_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: ABCA1: 656G>A; R219K; rs2230806
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Protective genes and pathways in Alzheimer's disease: moving towards precision interventions.

Molecular Neurodegeneration
Seto, Mabel M; Weiner, Rebecca L RL; Dumitrescu, Logan L; Hohman, Timothy J TJ
Publication Date: 2021-04-29

Variant appearance in text: ABCA1: R219K; rs2230806
PubMed Link: 33926499
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparative Transcriptome Analysis of Key Genes and Pathways Activated in Response to Fat Deposition in Two Sheep Breeds With Distinct Tail Phenotype.

Frontiers In Genetics
Zhang, Wei W; Xu, Mengsi M; Wang, Juanjuan J; Wang, Shiyin S; Wang, Xinhua X; Yang, Jingquan J; Gao, Lei L; Gan, Shangquan S
Publication Date: 2021

Variant appearance in text: ABCA1: R219K; rs2230806
PubMed Link: 33897762
Variant Present in the following documents:
  • Main text
View BVdb publication page



Apolipoprotein A1, the neglected relative of Apolipoprotein E and its potential role in Alzheimer's disease.

Neural Regeneration Research
Endres, Kristina K
Publication Date: 2021-11

Variant appearance in text: ABCA1: R219K
PubMed Link: 33818485
Variant Present in the following documents:
  • Main text
  • NRR-16-2141.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: ABCA1: Arg219Lys; rs2230806
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Advanced bioinformatic analysis and pathway prediction of NSCLC cells upon cisplatin resistance.

Scientific Reports
Hossian, A K M Nawshad AKMN; Zahra, Fatema Tuz FT; Poudel, Sagun S; Abshire, Camille F CF; Polk, Paula P; Garai, Jone J; Zabaleta, Jovanny J; Mikelis, Constantinos M CM; Mattheolabakis, George G
Publication Date: 2021-03-22

Variant appearance in text: ABCA1: 656G>A; Arg219Lys
PubMed Link: 33753779
Variant Present in the following documents:
  • 41598_2021_85930_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Azathioprine antagonizes aberrantly elevated lipid metabolism and induces apoptosis in glioblastoma.

Iscience
Nam, Hye Jin HJ; Kim, Young Eun YE; Moon, Byoung-San BS; Kim, Hyun Young HY; Jung, Daeyoung D; Choi, Seungho S; Jang, Jeong Woon JW; Nam, Do-Hyun DH; Cho, Heeyeong H
Publication Date: 2021-03-19

Variant appearance in text: ABCA1: R219K
PubMed Link: 33748720
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Common Genetic Variations Involved in the Inter-Individual Variability of Circulating Cholesterol Concentrations in Response to Diets: A Narrative Review of Recent Evidence.

Nutrients
Abdullah, Mohammad M H MMH; Vazquez-Vidal, Itzel I; Baer, David J DJ; House, James D JD; Jones, Peter J H PJH; Desmarchelier, Charles C
Publication Date: 2021-02-22

Variant appearance in text: ABCA1: R219K; rs2230806
PubMed Link: 33671529
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Role of the ATP-Binding Cassette A1 (ABCA1) in Human Disease.

International Journal Of Molecular Sciences
Jacobo-Albavera, Leonor L; Domínguez-Pérez, Mayra M; Medina-Leyte, Diana Jhoseline DJ; González-Garrido, Antonia A; Villarreal-Molina, Teresa T
Publication Date: 2021-02-05

Variant appearance in text: ABCA1: R219K; rs2230806
PubMed Link: 33562440
Variant Present in the following documents:
  • Main text
  • ijms-22-01593.pdf
View BVdb publication page



Influence of single nucleotide polymorphisms among cigarette smoking and non-smoking patients with coronary artery disease, urinary bladder cancer and lung cancer.

Plos One
Laytragoon Lewin, Nongnit N; Karlsson, Jan-Erik JE; Robinsson, David D; Fagerberg, Matida M; Kentsson, Magnus M; Sayardoust, Shariel S; Nilsson, Mats M; Shamoun, Levar L; Andersson, Bengt-Åke BÅ; Löfgren, Sture S; Rutqvist, Lars Erik LE; Lewin, Freddi F
Publication Date: 2021

Variant appearance in text: rs2230806
PubMed Link: 33507988
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21

Variant appearance in text: rs2230806
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM2_ESM.xls, sheet 1
View BVdb publication page



DALIA- a comprehensive resource of Disease Alleles in Arab population.

Plos One
Vatsyayan, Aastha A; Sharma, Parul P; Gupta, Shrey S; Sandhu, Sumiti S; Venu, Seetha Lakshmi SL; Sharma, Vandana V; Badaoui, Bouabid B; Azedine, Kaidi K; Youssef, Serti S; Rajab, Anna A; Fayez, Alaaeldin A; Madinur, Seema S; Ranawat, Anop A; Pandhare, Kavita K; Ramachandran, Srinivasan S; Sivasubbu, Sridhar S; Scaria, Vinod V
Publication Date: 2021

Variant appearance in text: ABCA1: 656G>A; rs2230806
PubMed Link: 33439861
Variant Present in the following documents:
  • pone.0244567.s011.xlsx, sheet 1
View BVdb publication page



Association between LXR-α and ABCA1 Gene Polymorphisms and the Risk of Diabetic Kidney Disease in Patients with Type 2 Diabetes Mellitus in a Chinese Han Population.

Journal Of Diabetes Research
Liu, Peng P; Ma, Liang L; Zhao, Hailing H; Shen, Zhengri Z; Zhou, Xuefeng X; Yan, Meihua M; Zhao, Tingting T; Zhang, Haojun H; Qiu, Xinping X; Li, Ping P
Publication Date: 2020

Variant appearance in text: ABCA1: R219K; rs2230806
PubMed Link: 33426085
Variant Present in the following documents:
  • Main text
  • JDR2020-8721536.pdf
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: ABCA1: 656G>A; R219K; rs2230806
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Association between SLC44A4-NOTCH4 SNPs and serum lipid levels in the Chinese Han and Maonan ethnic groups.

Nutrition & Metabolism
Zheng, Peng-Fei PF; Yin, Rui-Xing RX; Guan, Yao-Zong YZ; Wei, Bi-Liu BL; Liu, Chun-Xiao CX; Deng, Guo-Xiong GX
Publication Date: 2020-12-14

Variant appearance in text: ABCA1: R219K
PubMed Link: 33317561
Variant Present in the following documents:
  • 12986_2020_Article_533.pdf
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Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Publication Date: 2020-11-25

Variant appearance in text: ABCA1: R219K
PubMed Link: 33212010
Variant Present in the following documents:
  • NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5
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Genome Wide Epistasis Study of On-Statin Cardiovascular Events with Iterative Feature Reduction and Selection.

Journal Of Personalized Medicine
Adams, Solomon M SM; Feroze, Habiba H; Nguyen, Tara T; Eum, Seenae S; Cornelio, Cyrille C; Harralson, Arthur F AF
Publication Date: 2020-11-07

Variant appearance in text: rs2230806
PubMed Link: 33171725
Variant Present in the following documents:
  • Main text
  • jpm-10-00212.pdf
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Computational SNP Analysis and Molecular Simulation Revealed the Most Deleterious Missense Variants in the NBD1 Domain of Human ABCA1 Transporter.

International Journal Of Molecular Sciences
Dash, Raju R; Ali, Md Chayan MC; Rana, Md Liton ML; Munni, Yeasmin Akter YA; Barua, Largess L; Jahan, Israt I; Haque, Mst Fatema MF; Hannan, Md Abdul MA; Moon, Il Soo IS
Publication Date: 2020-10-14

Variant appearance in text: ABCA1: R219K; rs2230806
PubMed Link: 33066695
Variant Present in the following documents:
  • Main text
  • ijms-21-07606.pdf
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The impact of ATP-binding cassette transporters on metabolic diseases.

Nutrition & Metabolism
Ye, Zixiang Z; Lu, Yifei Y; Wu, Tao T
Publication Date: 2020

Variant appearance in text: ABCA1: R219K; rs2230806
PubMed Link: 32774439
Variant Present in the following documents:
  • Main text
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