CETP c.1264G>A ;(p.V422I)

Variant ID: 16-57016092-G-A

NM_000078.2(CETP):c.1264G>A;(p.V422I)

This variant was identified in 186 publications

View GRCh38 version.




Publications:


The essential role of N6-methyladenosine RNA methylation in complex eye diseases.

Genes & Diseases
Li, Xiaohua X; Ma, Binyun B; Zhang, Wenfang W; Song, Zongming Z; Zhang, Xiaodan X; Liao, Mengyu M; Li, Xue X; Zhao, Xueru X; Du, Mei M; Yu, Jinguo J; He, Shikun S; Yan, Hua H
Publication Date: 2023-03

Variant appearance in text: rs5882
PubMed Link: 37223523
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Cohort profile update: Tehran cardiometabolic genetic study.

European Journal Of Epidemiology
Daneshpour, Maryam S MS; Akbarzadeh, Mahdi M; Lanjanian, Hossein H; Sedaghati-Khayat, Bahar B; Guity, Kamran K; Masjoudi, Sajedeh S; Zahedi, Asiyeh Sadat AS; Moazzam-Jazi, Maryam M; Bonab, Leila Najd Hassan LNH; Shalbafan, Bita B; Asgarian, Sara S; Farhood, Goodarz Koli GK; Javanrooh, Niloofar N; Zarkesh, Maryam M; Riahi, Parisa P; Moghaddas, Mohammad Reza MR; Dehkordi, Parvaneh Arbab PA; Ahmadi, Azar Delbarpour AD; Hosseini, Firoozeh F; Farahani, Sara Jalali SJ; Hadaegh, Farzad F; Mirmiran, Parvin P; Tehrani, Fahimeh Ramezani FR; Ghanbarian, Arash A; Pasand, Mohammad Sadegh Fallah Mahboob MSFM; Amiri, Parisa P; Valizadeh, Majid M; Hosseipanah, Farhad F; Tohidi, Maryam M; Ghasemi, Asghar A; Zadeh-Vakili, Azita A; Piryaei, Mohammad M; Alamdari, Shahram S; Khalili, Davood D; Momenan, Amirabbas A; Barzin, Maryam M; Zeinali, Sirous S; Hedayati, Mehdi M; Azizi, Fereidoun F
Publication Date: 2023-05-12

Variant appearance in text: rs5882
PubMed Link: 37169991
Variant Present in the following documents:
  • Main text
  • 10654_2023_Article_1008.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: CETP: V422I
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Characteristics of circulating small noncoding RNAs in plasma and serum during human aging.

Aging Medicine (Milton (N.S.W))
Xiao, Ping P; Shi, Zhangyue Z; Liu, Chenang C; Hagen, Darren E DE
Publication Date: 2023-03

Variant appearance in text: rs5882
PubMed Link: 36911092
Variant Present in the following documents:
  • AGM2-6-35-s002.xlsx, sheet 3
View BVdb publication page



Cholesterol Management in Neurology: Time for Revised Strategies?

Journal Of Personalized Medicine
Andronie-Cioară, Felicia Liana FL; Jurcău, Anamaria A; Jurcău, Maria Carolina MC; Nistor-Cseppentö, Delia Carmen DC; Simion, Aurel A
Publication Date: 2022-11-30

Variant appearance in text: rs5882
PubMed Link: 36556202
Variant Present in the following documents:
  • Main text
  • jpm-12-01981.pdf
View BVdb publication page



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: rs5882
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Sex-related differences in single nucleotide polymorphisms associated with dyslipidemia in a Korean population.

Lipids In Health And Disease
Lee, Gyeonghee G; Jeon, Hye Kyung HK; Yoo, Hae Young HY
Publication Date: 2022-11-23

Variant appearance in text: rs5882
PubMed Link: 36419087
Variant Present in the following documents:
  • Main text
  • 12944_2022_Article_1736.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: CETP: 1264G>A; Val422Ile; rs5882
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: CETP: V422I
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: CETP: V422I; rs5882
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



The landscape of aging.

Science China. Life Sciences
Cai, Yusheng Y; Song, Wei W; Li, Jiaming J; Jing, Ying Y; Liang, Chuqian C; Zhang, Liyuan L; Zhang, Xia X; Zhang, Wenhui W; Liu, Beibei B; An, Yongpan Y; Li, Jingyi J; Tang, Baixue B; Pei, Siyu S; Wu, Xueying X; Liu, Yuxuan Y; Zhuang, Cheng-Le CL; Ying, Yilin Y; Dou, Xuefeng X; Chen, Yu Y; Xiao, Fu-Hui FH; Li, Dingfeng D; Yang, Ruici R; Zhao, Ya Y; Wang, Yang Y; Wang, Lihui L; Li, Yujing Y; Ma, Shuai S; Wang, Si S; Song, Xiaoyuan X; Ren, Jie J; Zhang, Liang L; Wang, Jun J; Zhang, Weiqi W; Xie, Zhengwei Z; Qu, Jing J; Wang, Jianwei J; Xiao, Yichuan Y; Tian, Ye Y; Wang, Gelin G; Hu, Ping P; Ye, Jing J; Sun, Yu Y; Mao, Zhiyong Z; Kong, Qing-Peng QP; Liu, Qiang Q; Zou, Weiguo W; Tian, Xiao-Li XL; Xiao, Zhi-Xiong ZX; Liu, Yong Y; Liu, Jun-Ping JP; Song, Moshi M; Han, Jing-Dong J JJ; Liu, Guang-Hui GH
Publication Date: 2022-12

Variant appearance in text: rs5882
PubMed Link: 36066811
Variant Present in the following documents:
  • 11427_2022_Article_2161.pdf
View BVdb publication page



Impact of Lipid Genetic Risk Score and Saturated Fatty Acid Intake on Central Obesity in an Asian Indian Population.

Nutrients
Wuni, Ramatu R; Adela Nathania, Evelyn E; Ayyappa, Ashok K AK; Lakshmipriya, Nagarajan N; Ramya, Kandaswamy K; Gayathri, Rajagopal R; Geetha, Gunasekaran G; Anjana, Ranjit Mohan RM; Kuhnle, Gunter G C GGC; Radha, Venkatesan V; Mohan, Viswanathan V; Sudha, Vasudevan V; Vimaleswaran, Karani Santhanakrishnan KS
Publication Date: 2022-06-29

Variant appearance in text: rs5882
PubMed Link: 35807893
Variant Present in the following documents:
  • Main text
  • nutrients-14-02713.pdf
View BVdb publication page



Cardiometabolic genomics and pharmacogenomics investigations in Filipino Americans: Steps towards precision health and reducing health disparities.

American Heart Journal Plus : Cardiology Research And Practice
Roman, Youssef M YM; McClish, Donna D; Price, Elvin T ET; Sabo, Roy T RT; Woodward, Owen M OM; Mersha, Tesfaye B TB; Shah, Nehal N; Armada, Andrew A; Terkeltaub, Robert R
Publication Date: 2022-03

Variant appearance in text: rs5882
PubMed Link: 35647570
Variant Present in the following documents:
  • nihms-1809248.pdf
View BVdb publication page



"GENYAL" Study to Childhood Obesity Prevention: Methodology and Preliminary Results.

Frontiers In Nutrition
Marcos-Pasero, Helena H; Aguilar-Aguilar, Elena E; de la Iglesia, Rocío R; Espinosa-Salinas, Isabel I; Molina, Susana S; Colmenarejo, Gonzalo G; Martínez, J Alfredo JA; Ramírez de Molina, Ana A; Reglero, Guillermo G; Loria-Kohen, Viviana V
Publication Date: 2022

Variant appearance in text: rs5882
PubMed Link: 35350411
Variant Present in the following documents:
  • fnut-09-777384.pdf
View BVdb publication page



Nutrigenetics, omega-3 and plasma lipids/lipoproteins/apolipoproteins with evidence evaluation using the GRADE approach: a systematic review.

Bmj Open
Keathley, Justine J; Garneau, Véronique V; Marcil, Valérie V; Mutch, David M DM; Robitaille, Julie J; Rudkowska, Iwona I; Sofian, Gabriela Magdalena GM; Desroches, Sophie S; Vohl, Marie-Claude MC
Publication Date: 2022-02-22

Variant appearance in text: rs5882
PubMed Link: 35193914
Variant Present in the following documents:
  • bmjopen-2021-054417supp001.pdf
  • bmjopen-2021-054417.draft_revisions.pdf
View BVdb publication page



A Nutrigenetic Update on CETP Gene-Diet Interactions on Lipid-Related Outcomes.

Current Atherosclerosis Reports
Wuni, Ramatu R; Kuhnle, Gunter G C GGC; Wynn-Jones, Alexandra Azzari AA; Vimaleswaran, Karani Santhanakrishnan KS
Publication Date: 2022-02

Variant appearance in text: rs5882
PubMed Link: 35098451
Variant Present in the following documents:
  • Main text
  • 11883_2022_Article_987.pdf
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: CETP: V422I
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page



Identification and replication of novel genetic variants of ABO gene to reduce the incidence of diseases and promote longevity by modulating lipid homeostasis.

Aging
Ni, Xiaolin X; Bai, Chen C; Nie, Chao C; Qi, Liping L; Liu, Yifang Y; Yuan, Huiping H; Zhu, Xiaoquan X; Sun, Liang L; Zhou, Qi Q; Li, Yan Y; Zhen, Hefu H; Su, Huabing H; Li, Rongqiao R; Lan, Rushu R; Pang, Guofang G; Lv, Yuan Y; Zhang, Wei W; Yang, Fan F; Yao, Yao Y; Chen, Chen C; Wang, Zhaoping Z; Gao, Danni D; Zhang, Nan N; Zhang, Shenqi S; Zhang, Li L; Wu, Zhu Z; Hu, Caiyou C; Zeng, Yi Y; Yang, Ze Z
Publication Date: 2021-11-22

Variant appearance in text: rs5882
PubMed Link: 34812738
Variant Present in the following documents:
  • Main text
  • aging-13-203700.pdf
View BVdb publication page



Identification and replication of novel genetic variants of ABO gene to reduce the incidence of diseases and promote longevity by modulating lipid homeostasis.

Aging
Ni, Xiaolin X; Bai, Chen C; Nie, Chao C; Qi, Liping L; Liu, Yifang Y; Yuan, Huiping H; Zhu, Xiaoquan X; Sun, Liang L; Zhou, Qi Q; Li, Yan Y; Zhen, Hefu H; Su, Huabing H; Li, Rongqiao R; Lan, Rushu R; Pang, Guofang G; Lv, Yuan Y; Zhang, Wei W; Yang, Fan F; Yao, Yao Y; Chen, Chen C; Wang, Zhaoping Z; Gao, Danni D; Zhang, Nan N; Zhang, Shenqi S; Zhang, Li L; Wu, Zhu Z; Hu, Caiyou C; Zeng, Yi Y; Yang, Ze Z
Publication Date: 2021-11-22

Variant appearance in text: rs5882
PubMed Link: 34812738
Variant Present in the following documents:
  • Main text
  • aging-13-203700.pdf
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: CETP: V422I; rs5882
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: CETP: V422I; rs5882
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Engineered pegRNAs improve prime editing efficiency.

Nature Biotechnology
Nelson, James W JW; Randolph, Peyton B PB; Shen, Simon P SP; Everette, Kelcee A KA; Chen, Peter J PJ; Anzalone, Andrew V AV; An, Meirui M; Newby, Gregory A GA; Chen, Jonathan C JC; Hsu, Alvin A; Liu, David R DR
Publication Date: 2022-03

Variant appearance in text: rs5882
PubMed Link: 34608327
Variant Present in the following documents:
  • NIHMS1729173-supplement-Sup_tab.xlsx, sheet 6
View BVdb publication page



Cholesteryl ester transfer protein (CETP) as a drug target for cardiovascular disease.

Nature Communications
Schmidt, Amand F AF; Hunt, Nicholas B NB; Gordillo-Marañón, Maria M; Charoen, Pimphen P; Drenos, Fotios F; Kivimaki, Mika M; Lawlor, Deborah A DA; Giambartolomei, Claudia C; Papacosta, Olia O; Chaturvedi, Nishi N; Bis, Joshua C JC; O'Donnell, Christopher J CJ; Wannamethee, Goya G; Wong, Andrew A; Price, Jackie F JF; Hughes, Alun D AD; Gaunt, Tom R TR; Franceschini, Nora N; Mook-Kanamori, Dennis O DO; Zwierzyna, Magdalena M; Sofat, Reecha R; Hingorani, Aroon D AD; Finan, Chris C
Publication Date: 2021-09-24

Variant appearance in text: rs5882
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.pdf
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: CETP: 1264G>A; V422I; rs5882
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Alcohol Drinking, Apolipoprotein Polymorphisms and the Risk of Cardiovascular Diseases.

Current Neurovascular Research
Ceci, Flavio M FM; Ceccanti, Mauro M; Petrella, Carla C; Vitali, Mario M; Messina, Marisa P MP; Chaldakov, George N GN; Greco, Antonio A; Ralli, Massimo M; Lucarelli, Marco M; Angeloni, Antonio A; Fiore, Marco M; Ferraguti, Giampiero G
Publication Date: 2021

Variant appearance in text: rs5882
PubMed Link: 33823779
Variant Present in the following documents:
  • CNR-18-150.pdf
View BVdb publication page



Alcohol Drinking, Apolipoprotein Polymorphisms and the Risk of Cardiovascular Diseases.

Current Neurovascular Research
Ceci, Flavio M FM; Ceccanti, Mauro M; Petrella, Carla C; Vitali, Mario M; Messina, Marisa P MP; Chaldakov, George N GN; Greco, Antonio A; Ralli, Massimo M; Lucarelli, Marco M; Angeloni, Antonio A; Fiore, Marco M; Ferraguti, Giampiero G
Publication Date: 2021

Variant appearance in text: rs5882
PubMed Link: 33823779
Variant Present in the following documents:
  • CNR-18-150.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: CETP: Val422Ile; rs5882
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: CETP: 1264G>A; V422I; rs5882
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 3
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
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: CETP: V422I; rs5882
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM2_ESM.xls, 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: CETP: V422I; rs5882
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Variants behind Cardiovascular Diseases and Dementia.

Genes
Ho, Wei-Min WM; Wu, Yah-Yuan YY; Chen, Yi-Chun YC
Publication Date: 2020-12-18

Variant appearance in text: rs5882
PubMed Link: 33352859
Variant Present in the following documents:
  • Main text
  • genes-11-01514.pdf
View BVdb publication page



Polygenic Risk Score of Longevity Predicts Longer Survival Across an Age Continuum.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences
Tesi, Niccolo' N; van der Lee, Sven J SJ; Hulsman, Marc M; Jansen, Iris E IE; Stringa, Najada N; van Schoor, Natasja M NM; Scheltens, Philip P; van der Flier, Wiesje M WM; Huisman, Martijn M; Reinders, Marcel J T MJT; Holstege, Henne H
Publication Date: 2021-04-30

Variant appearance in text: rs5882
PubMed Link: 33216869
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs5882
PubMed Link: 33171725
Variant Present in the following documents:
  • Main text
  • jpm-10-00212.pdf
View BVdb publication page



An Updated Review of the Epigenetic Mechanism Underlying the Pathogenesis of Age-related Macular Degeneration.

Aging And Disease
Li, Xiaohua X; He, Shikun S; Zhao, Mingwei M
Publication Date: 2020-10

Variant appearance in text: rs5882
PubMed Link: 33014534
Variant Present in the following documents:
  • Main text
  • ad-11-5-1219.pdf
View BVdb publication page



Association of genetic variants at CETP, AGER, and CYP4F2 locus with the risk of atrophic age-related macular degeneration.

Molecular Genetics & Genomic Medicine
Liutkeviciene, Rasa R; Vilkeviciute, Alvita A; Kriauciuniene, Loresa L; Banevicius, Mantas M; Budiene, Brigita B; Stanislovaitiene, Daiva D; Zemaitiene, Reda R; Deltuva, Vytenis P VP
Publication Date: 2020-09

Variant appearance in text: rs5882
PubMed Link: 32666702
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1357.pdf
View BVdb publication page



Genomic profiling of colorectal cancer with isolated lung metastasis.

Cancer Cell International
Zhang, Nan N; Di, Jiabo J; Wang, Zaozao Z; Gao, Pin P; Jiang, Beihai B; Su, Xiangqian X
Publication Date: 2020

Variant appearance in text: CETP: V422I; rs5882
PubMed Link: 32624706
Variant Present in the following documents:
  • 12935_2020_1373_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: CETP: V422I; rs5882
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Latest Developments in Polypoidal Choroidal Vasculopathy: Epidemiology, Etiology, Diagnosis, and Treatment.

Asia-Pacific Journal Of Ophthalmology (Philadelphia, Pa.)
Chaikitmongkol, Voraporn V; Cheung, Chui Ming Gemmy CMG; Koizumi, Hideki H; Govindahar, Vishal V; Chhablani, Jay J; Lai, Timothy Y Y TYY
Publication Date: 2020

Variant appearance in text: rs5882
PubMed Link: 32332215
Variant Present in the following documents:
  • Main text
View BVdb publication page



The association of polypoidal choroidal vasculopathy clinical phenotypes with previously reported genetic markers.

Graefe'S Archive For Clinical And Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie
Luo, Mingyue M; Zhao, Xinyu X; Yang, Jingyuan J; Chen, Youxin Y
Publication Date: 2020-06

Variant appearance in text: rs5882
PubMed Link: 32328755
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs5882
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genes and Eating Preferences, Their Roles in Personalized Nutrition.

Genes
Vesnina, Anna A; Prosekov, Alexander A; Kozlova, Oksana O; Atuchin, Victor V
Publication Date: 2020-03-27

Variant appearance in text: rs5882
PubMed Link: 32230794
Variant Present in the following documents:
  • Main text
  • genes-11-00357.pdf
View BVdb publication page



Quantile-dependent expressivity of postprandial lipemia.

Plos One
Williams, Paul T PT
Publication Date: 2020

Variant appearance in text: rs5882
PubMed Link: 32101585
Variant Present in the following documents:
  • Main text
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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: CETP: 1264G>A; V422I; rs5882
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.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: CETP: 1264G>A; Val422Ile
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Utility of genetic variants to predict prognosis in coronary artery disease patients receiving statin treatment.

International Journal Of Clinical And Experimental Pathology
Zhu, Li L; Ji, Xiaoli X; Jiang, Lin L; Zhu, Yabin Y; Xu, Yumin Y; Jiang, Qinxiao Q; Bao, Jingjing J; Ye, Jun J; Sheng, Haihui H; Yu, Hong H
Publication Date: 2017

Variant appearance in text: rs5882
PubMed Link: 31966745
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Effect of Haplotypes in the CETP and LIPC Genes on the Triglycerides to HDL-C Ratio and Its Components in the Roma and Hungarian General Populations.

Genes
Piko, Peter P; Fiatal, Szilvia S; Werissa, Nardos Abebe NA; Bekele, Bayu Begashaw BB; Racz, Gabor G; Kosa, Zsigmond Z; Sandor, Janos J; Adany, Roza R
Publication Date: 2020-01-03

Variant appearance in text: rs5882
PubMed Link: 31947886
Variant Present in the following documents:
  • Main text
  • genes-11-00056.pdf
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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications
Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T
Publication Date: 2020-01-03

Variant appearance in text: CETP: V422I
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
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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: rs5882
PubMed Link: 31746962
Variant Present in the following documents:
  • jamacardiol-5-13-s001.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: CETP: 1264G>A; Val422Ile; rs5882
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports
AlSafar, Habiba S HS; Al-Ali, Mariam M; Elbait, Gihan Daw GD; Al-Maini, Mustafa H MH; Ruta, Dymitr D; Peramo, Braulio B; Henschel, Andreas A; Tay, Guan K GK
Publication Date: 2019-10-11

Variant appearance in text: CETP: V422I; rs5882
PubMed Link: 31604968
Variant Present in the following documents:
  • Main text
  • 41598_2019_50876_MOESM1_ESM.xlsx, sheet 2
  • 41598_2019_50876_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: CETP: V422I; rs5882
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page