CETP c.930+24T>A

Variant ID: 16-57007446-T-A

NM_000078.2(CETP):c.930+24T>A

This variant was identified in 14 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: rs11076176
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, 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: rs11076176
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_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: rs11076176
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
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Exome Sequencing Data Analysis and a Case-Control Study in Mexican Population Reveals Lipid Trait Associations of New and Known Genetic Variants in Dyslipidemia-Associated Loci.

Frontiers In Genetics
Jurado-Camacho, Pedro A PA; Cid-Soto, Miguel A MA; Barajas-Olmos, Francisco F; García-Ortíz, Humberto H; Baca-Peynado, Paulina P; Martínez-Hernández, Angélica A; Centeno-Cruz, Federico F; Contreras-Cubas, Cecilia C; González-Villalpando, María Elena ME; Saldaña-Álvarez, Yolanda Y; Salas-Martinez, Guadalupe G; Mendoza-Caamal, Elvia C EC; González-Villalpando, Clicerio C; Córdova, Emilio J EJ; Orozco, Lorena L
Publication Date: 2022

Variant appearance in text: rs11076176
PubMed Link: 35669185
Variant Present in the following documents:
  • Main text
  • fgene-13-807381.pdf
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: rs11076176
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.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: rs11076176
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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: rs11076176
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Multiplexed Targeted Resequencing Identifies Coding and Regulatory Variation Underlying Phenotypic Extremes of High-Density Lipoprotein Cholesterol in Humans.

Circulation. Genomic And Precision Medicine
Khetarpal, Sumeet A SA; Babb, Paul L PL; Zhao, Wei W; Hancock-Cerutti, William F WF; Brown, Christopher D CD; Rader, Daniel J DJ; Voight, Benjamin F BF
Publication Date: 2018-07

Variant appearance in text: rs11076176
PubMed Link: 29987113
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome Sequencing Identifies Genetic Variants Associated with Circulating Lipid Levels in Mexican Americans: The Insulin Resistance Atherosclerosis Family Study (IRASFS).

Scientific Reports
Gao, Chuan C; Tabb, Keri L KL; Dimitrov, Latchezar M LM; Taylor, Kent D KD; Wang, Nan N; Guo, Xiuqing X; Long, Jirong J; Rotter, Jerome I JI; Watanabe, Richard M RM; Curran, Joanne E JE; Blangero, John J; Langefeld, Carl D CD; Bowden, Donald W DW; Palmer, Nicholette D ND
Publication Date: 2018-04-04

Variant appearance in text: rs11076176
PubMed Link: 29618726
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_23727.pdf
View BVdb publication page



Multiple linear combination (MLC) regression tests for common variants adapted to linkage disequilibrium structure.

Genetic Epidemiology
Yoo, Yun Joo YJ; Sun, Lei L; Poirier, Julia G JG; Paterson, Andrew D AD; Bull, Shelley B SB
Publication Date: 2017-02

Variant appearance in text: rs11076176
PubMed Link: 27885705
Variant Present in the following documents:
  • Main text
  • GEPI-41-108.pdf
View BVdb publication page



c.*84G>A Mutation in CETP Is Associated with Coronary Artery Disease in South Indians.

Plos One
Ganesan, Mala M; Nizamuddin, Sheikh S; Katkam, Shiva Krishna SK; Kumaraswami, Konda K; Hosad, Uday Kumar UK; Lobo, Limmy Loret LL; Kutala, Vijay Kumar VK; Thangaraj, Kumarasamy K
Publication Date: 2016

Variant appearance in text: rs11076176
PubMed Link: 27768712
Variant Present in the following documents:
  • Main text
  • pone.0164151.pdf
View BVdb publication page



Resequencing of the CETP gene in American whites and African blacks: Association of rare and common variants with HDL-cholesterol levels.

Metabolism: Clinical And Experimental
Pirim, Dilek D; Wang, Xingbin X; Niemsiri, Vipavee V; Radwan, Zaheda H ZH; Bunker, Clareann H CH; Hokanson, John E JE; Hamman, Richard F RF; Barmada, M Michael MM; Demirci, F Yesim FY; Kamboh, M Ilyas MI
Publication Date: 2016-01

Variant appearance in text: rs11076176
PubMed Link: 26683795
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

Plos One
Musunuru, Kiran K; Romaine, Simon P R SP; Lettre, Guillaume G; Wilson, James G JG; Volcik, Kelly A KA; Tsai, Michael Y MY; Taylor, Herman A HA; Schreiner, Pamela J PJ; Rotter, Jerome I JI; Rich, Stephen S SS; Redline, Susan S; Psaty, Bruce M BM; Papanicolaou, George J GJ; Ordovas, Jose M JM; Liu, Kiang K; Krauss, Ronald M RM; Glazer, Nicole L NL; Gabriel, Stacey B SB; Fornage, Myriam M; Cupples, L Adrienne LA; Buxbaum, Sarah G SG; Boerwinkle, Eric E; Ballantyne, Christie M CM; Kathiresan, Sekar S; Rader, Daniel J DJ
Publication Date: 2012

Variant appearance in text: rs11076176
PubMed Link: 22629316
Variant Present in the following documents:
  • Main text
  • pone.0036473.pdf
View BVdb publication page



Common Variants in 6 Lipid-Related Genes Discovered by High-Resolution DNA Melting Analysis and Their Association with Plasma Lipids.

Journal Of Clinical & Experimental Cardiology
Carlquist, John F JF; McKinney, Jason T JT; Horne, Benjamin D BD; Camp, Nicola J NJ; Cannon-Albright, Lisa L; Muhlestein, Joseph B JB; Hopkins, Paul P; Clarke, Jessica L JL; Mower, Chrissa P CP; Park, James J JJ; Nicholas, Zachary P ZP; Huntinghouse, John A JA; Anderson, Jeffrey L JL
Publication Date: 2011-07-10

Variant appearance in text: rs11076176
PubMed Link: 22229114
Variant Present in the following documents:
  • Main text
View BVdb publication page