LDLR c.*773A>G

Variant ID: 19-11242765-A-G

NM_000527.4(LDLR):c.*773A>G

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs2738466
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: rs2738466
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
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: rs2738466
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
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The c.*52 A/G and c.*773 A/G Genetic Variants in the UTR'3 of the LDLR Gene Are Associated with the Risk of Acute Coronary Syndrome and Lower Plasma HDL-Cholesterol Concentration.

Biomolecules
Vargas-Alarcon, Gilberto G; Perez-Mendez, Oscar O; Ramirez-Bello, Julian J; Posadas-Sanchez, Rosalinda R; Gonzalez-Pacheco, Hector H; Escobedo, Galileo G; Nieto-Lima, Betzabe B; Carreon-Torres, Elizabeth E; Fragoso, Jose Manuel JM
Publication Date: 2020-09-29

Variant appearance in text: rs2738466
PubMed Link: 33003376
Variant Present in the following documents:
  • Main text
  • biomolecules-10-01381.pdf
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Role of Genetic Variations in the Hepatic Handling of Drugs.

International Journal Of Molecular Sciences
Marin, Jose J G JJG; Serrano, Maria A MA; Monte, Maria J MJ; Sanchez-Martin, Anabel A; Temprano, Alvaro G AG; Briz, Oscar O; Romero, Marta R MR
Publication Date: 2020-04-20

Variant appearance in text: rs2738466
PubMed Link: 32326111
Variant Present in the following documents:
  • Main text
  • ijms-21-02884.pdf
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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs2738466
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Polymorphisms in PCSK9, LDLR, BCMO1, SLC12A3, and KCNJ1 are Associated with Serum Lipid Profile in Chinese Han Population.

International Journal Of Environmental Research And Public Health
Li, Zheng Z; Zhao, Tianyu T; Tan, Xiaohua X; Lei, Song S; Huang, Liu L; Yang, Lei L
Publication Date: 2019-09-02

Variant appearance in text: rs2738466
PubMed Link: 31480784
Variant Present in the following documents:
  • Main text
  • ijerph-16-03207.pdf
View BVdb publication page



SNP rs688 within the low-density lipoprotein receptor (LDL-R) gene associates with HCV susceptibility.

Liver International : Official Journal Of The International Association For The Study Of The Liver
Steba, Gaby S GS; Koekkoek, Sylvie M SM; Tanck, Michael W T MWT; Vanhommerig, Joost W JW; van der Meer, Jan T M JTM; Kwa, David D; Brinkman, Kees K; Prins, Maria M; Berkhout, Ben B; Pollakis, Georgios G; Molenkamp, Richard R; Schinkel, Janke J; Paxton, William A WA; ,
Publication Date: 2019-03

Variant appearance in text: rs2738466
PubMed Link: 30260075
Variant Present in the following documents:
  • Main text
  • LIV-39-463.pdf
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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs2738466
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
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Candidate gene analysis for Alzheimer's disease in adults with Down syndrome.

Neurobiology Of Aging
Lee, Joseph H JH; Lee, Annie J AJ; Dang, Lam-Ha LH; Pang, Deborah D; Kisselev, Sergey S; Krinsky-McHale, Sharon J SJ; Zigman, Warren B WB; Luchsinger, José A JA; Silverman, Wayne W; Tycko, Benjamin B; Clark, Lorraine N LN; Schupf, Nicole N
Publication Date: 2017-08

Variant appearance in text: rs2738466
PubMed Link: 28554490
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs2738466
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Laboratory Medicine in the Clinical Decision Support for Treatment of Hypercholesterolemia: Pharmacogenetics of Statins.

Clinics In Laboratory Medicine
Ruaño, Gualberto G; Seip, Richard R; Windemuth, Andreas A; Wu, Alan H B AH; Thompson, Paul D PD
Publication Date: 2016-09

Variant appearance in text: rs2738466
PubMed Link: 27514463
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Variants of LDLR and PCSK9 Associated with Variations in Response to Antihypercholesterolemic Effects of Armolipid Plus with Berberine.

Plos One
De Castro-Orós, Isabel I; Solà, Rosa R; Valls, Rosa María RM; Brea, Angel A; Mozas, Pilar P; Puzo, Jose J; Pocoví, Miguel M
Publication Date: 2016

Variant appearance in text: rs2738466
PubMed Link: 27015087
Variant Present in the following documents:
  • Main text
  • pone.0150785.pdf
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Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

Bmc Medical Genetics
Radovica-Spalvina, Ilze I; Latkovskis, Gustavs G; Silamikelis, Ivars I; Fridmanis, Davids D; Elbere, Ilze I; Ventins, Karlis K; Ozola, Guna G; Erglis, Andrejs A; Klovins, Janis J
Publication Date: 2015-09-28

Variant appearance in text: rs2738466
PubMed Link: 26415676
Variant Present in the following documents:
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs2738466
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
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Meta-analysis of low density lipoprotein receptor (LDLR) rs2228671 polymorphism and coronary heart disease.

Biomed Research International
Ye, Huadan H; Zhao, Qianlei Q; Huang, Yi Y; Wang, Lingyan L; Liu, Haibo H; Wang, Chunming C; Dai, Dongjun D; Xu, Leiting L; Ye, Meng M; Duan, Shiwei S
Publication Date: 2014

Variant appearance in text: rs2738466
PubMed Link: 24900971
Variant Present in the following documents:
  • Main text
  • BMRI2014-564940.pdf
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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: rs2738466
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
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Low density lipoprotein receptor polymorphisms and the risk of coronary heart disease: the Atherosclerosis Risk in Communities Study.

Journal Of Thrombosis And Haemostasis : Jth
Franceschini, N N; Muallem, H H; Rose, K M KM; Boerwinkle, E E; Maeda, N N
Publication Date: 2009-03

Variant appearance in text: rs2738466
PubMed Link: 19087220
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

Experimental Gerontology
Boes, Eva E; Coassin, Stefan S; Kollerits, Barbara B; Heid, Iris M IM; Kronenberg, Florian F
Publication Date: 2009-03

Variant appearance in text: rs2738466
PubMed Link: 19041386
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation at the LDL receptor and HMG-CoA reductase gene loci, lipid levels, statin response, and cardiovascular disease incidence in PROSPER.

Atherosclerosis
Polisecki, Eliana E; Muallem, Hind H; Maeda, Nobuyo N; Peter, Inga I; Robertson, Michele M; McMahon, Alex D AD; Ford, Ian I; Packard, Christopher C; Shepherd, James J; Jukema, J Wouter JW; Westendorp, Rudi G J RG; de Craen, Anton J M AJ; Buckley, Brendan M BM; Ordovas, Jose M JM; Schaefer, Ernst J EJ; ,
Publication Date: 2008-09

Variant appearance in text: rs2738466
PubMed Link: 18261733
Variant Present in the following documents:
  • Main text
View BVdb publication page