PC c.1213A>G ;(p.I405V)

Variant ID: 11-66631400-T-C

NM_001040716.1(PC):c.1213A>G;(p.I405V)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.

Cell Genomics
Zhou, Wei W; Kanai, Masahiro M; Wu, Kuan-Han H KH; Rasheed, Humaira H; Tsuo, Kristin K; Hirbo, Jibril B JB; Wang, Ying Y; Bhattacharya, Arjun A; Zhao, Huiling H; Namba, Shinichi S; Surakka, Ida I; Wolford, Brooke N BN; Lo Faro, Valeria V; Lopera-Maya, Esteban A EA; Läll, Kristi K; Favé, Marie-Julie MJ; Partanen, Juulia J JJ; Chapman, Sinéad B SB; Karjalainen, Juha J; Kurki, Mitja M; Maasha, Mutaamba M; Brumpton, Ben M BM; Chavan, Sameer S; Chen, Tzu-Ting TT; Daya, Michelle M; Ding, Yi Y; Feng, Yen-Chen A YA; Guare, Lindsay A LA; Gignoux, Christopher R CR; Graham, Sarah E SE; Hornsby, Whitney E WE; Ingold, Nathan N; Ismail, Said I SI; Johnson, Ruth R; Laisk, Triin T; Lin, Kuang K; Lv, Jun J; Millwood, Iona Y IY; Moreno-Grau, Sonia S; Nam, Kisung K; Palta, Priit P; Pandit, Anita A; Preuss, Michael H MH; Saad, Chadi C; Setia-Verma, Shefali S; Thorsteinsdottir, Unnur U; Uzunovic, Jasmina J; Verma, Anurag A; Zawistowski, Matthew M; Zhong, Xue X; Afifi, Nahla N; Al-Dabhani, Kawthar M KM; Al Thani, Asma A; Bradford, Yuki Y; Campbell, Archie A; Crooks, Kristy K; de Bock, Geertruida H GH; Damrauer, Scott M SM; Douville, Nicholas J NJ; Finer, Sarah S; Fritsche, Lars G LG; Fthenou, Eleni E; Gonzalez-Arroyo, Gilberto G; Griffiths, Christopher J CJ; Guo, Yu Y; Hunt, Karen A KA; Ioannidis, Alexander A; Jansonius, Nomdo M NM; Konuma, Takahiro T; Lee, Ming Ta Michael MTM; Lopez-Pineda, Arturo A; Matsuda, Yuta Y; Marioni, Riccardo E RE; Moatamed, Babak B; Nava-Aguilar, Marco A MA; Numakura, Kensuke K; Patil, Snehal S; Rafaels, Nicholas N; Richmond, Anne A; Rojas-Muñoz, Agustin A; Shortt, Jonathan A JA; Straub, Peter P; Tao, Ran R; Vanderwerff, Brett B; Vernekar, Manvi M; Veturi, Yogasudha Y; Barnes, Kathleen C KC; Boezen, Marike M; Chen, Zhengming Z; Chen, Chia-Yen CY; Cho, Judy J; Smith, George Davey GD; Finucane, Hilary K HK; Franke, Lude L; Gamazon, Eric R ER; Ganna, Andrea A; Gaunt, Tom R TR; Ge, Tian T; Huang, Hailiang H; Huffman, Jennifer J; Katsanis, Nicholas N; Koskela, Jukka T JT; Lajonchere, Clara C; Law, Matthew H MH; Li, Liming L; Lindgren, Cecilia M CM; Loos, Ruth J F RJF; MacGregor, Stuart S; Matsuda, Koichi K; Olsen, Catherine M CM; Porteous, David J DJ; Shavit, Jordan A JA; Snieder, Harold H; Takano, Tomohiro T; Trembath, Richard C RC; Vonk, Judith M JM; Whiteman, David C DC; Wicks, Stephen J SJ; Wijmenga, Cisca C; Wright, John J; Zheng, Jie J; Zhou, Xiang X; Awadalla, Philip P; Boehnke, Michael M; Bustamante, Carlos D CD; Cox, Nancy J NJ; Fatumo, Segun S; Geschwind, Daniel H DH; Hayward, Caroline C; Hveem, Kristian K; Kenny, Eimear E EE; Lee, Seunggeun S; Lin, Yen-Feng YF; Mbarek, Hamdi H; Mägi, Reedik R; Martin, Hilary C HC; Medland, Sarah E SE; Okada, Yukinori Y; Palotie, Aarno V AV; Pasaniuc, Bogdan B; Rader, Daniel J DJ; Ritchie, Marylyn D MD; Sanna, Serena S; Smoller, Jordan W JW; Stefansson, Kari K; van Heel, David A DA; Walters, Robin G RG; Zöllner, Sebastian S; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; Martin, Alicia R AR; Willer, Cristen J CJ; Daly, Mark J MJ; Neale, Benjamin M BM
Publication Date: 2022-10-12

Variant appearance in text: PC: I405V
PubMed Link: 36777996
Variant Present in the following documents:
  • main.pdf
  • mmc28.pdf
View BVdb publication page



A description of the relationship in healthy longevity and aging-related disease: from gene to protein.

Immunity & Ageing : I & A
Ni, Xiaolin X; Wang, Zhaoping Z; Gao, Danni D; Yuan, Huiping H; Sun, Liang L; Zhu, Xiaoquan X; Zhou, Qi Q; Yang, Ze Z
Publication Date: 2021-06-25

Variant appearance in text: PC: I405V
PubMed Link: 34172062
Variant Present in the following documents:
  • 12979_2021_Article_241.pdf
View BVdb publication page



HDL from an Alzheimer's disease perspective.

Current Opinion In Lipidology
Button, Emily B EB; Robert, Jérôme J; Caffrey, Tara M TM; Fan, Jianjia J; Zhao, Wenchen W; Wellington, Cheryl L CL
Publication Date: 2019-06

Variant appearance in text: PC: I405V
PubMed Link: 30946049
Variant Present in the following documents:
  • colip-30-224.pdf
View BVdb publication page



Prevalence and correlates of chronic diseases in an elderly population: A community-based survey in Haikou.

Plos One
Zhao, Chanjuan C; Wong, Liping L; Zhu, Qing Q; Yang, Hao H
Publication Date: 2018

Variant appearance in text: PC: I405V
PubMed Link: 29902222
Variant Present in the following documents:
  • pone.0199006.pdf
View BVdb publication page



Association of cholesteryl ester transfer protein (CETP) gene polymorphism, high density lipoprotein cholesterol and risk of coronary artery disease: a meta-analysis using a Mendelian randomization approach.

Bmc Medical Genetics
Wu, Zhijun Z; Lou, Yuqing Y; Qiu, Xiaochun X; Liu, Yan Y; Lu, Lin L; Chen, Qiujing Q; Jin, Wei W
Publication Date: 2014-10-23

Variant appearance in text: PC: I405V
PubMed Link: 25366166
Variant Present in the following documents:
  • 12881_2014_Article_118.pdf
View BVdb publication page



Genetic analysis of long-lived families reveals novel variants influencing high density-lipoprotein cholesterol.

Frontiers In Genetics
Feitosa, Mary F MF; Wojczynski, Mary K MK; Straka, Robert R; Kammerer, Candace M CM; Lee, Joseph H JH; Kraja, Aldi T AT; Christensen, Kaare K; Newman, Anne B AB; Province, Michael A MA; Borecki, Ingrid B IB
Publication Date: 2014

Variant appearance in text: PC: I405V
PubMed Link: 24917880
Variant Present in the following documents:
  • Main text
  • fgene-05-00159.pdf
View BVdb publication page



Strong interaction between T allele of endothelial nitric oxide synthase with B1 allele of cholesteryl ester transfer protein TaqIB highly elevates the risk of coronary artery disease and type 2 diabetes mellitus.

Human Genomics
Rahimi, Zohreh Z; Nourozi-Rad, Reza R; Rahimi, Ziba Z; Parsian, Abbas A
Publication Date: 2012-09-25

Variant appearance in text: PC: I405V
PubMed Link: 23157875
Variant Present in the following documents:
  • 1479-7364-6-20.pdf
View BVdb publication page



The role of common variants of the cholesteryl ester transfer protein gene in left main coronary artery disease.

Lipids In Health And Disease
Kolovou, Genovefa G; Vasiliadis, Ioannis I; Kolovou, Vana V; Karakosta, Agathi A; Mavrogeni, Sophie S; Papadopoulou, Evaggelia E; Papamentzelopoulos, Spiridon S; Giannakopoulou, Vasiliki V; Marvaki, Apostolia A; Degiannis, Dimitrios D; Bilianou, Helen H
Publication Date: 2011-09-07

Variant appearance in text: PC: I405V
PubMed Link: 21899732
Variant Present in the following documents:
  • 1476-511X-10-156.pdf
View BVdb publication page



Triglyceride-rich lipoproteins and high-density lipoprotein cholesterol in patients at high risk of cardiovascular disease: evidence and guidance for management.

European Heart Journal
Chapman, M John MJ; Ginsberg, Henry N HN; Amarenco, Pierre P; Andreotti, Felicita F; Borén, Jan J; Catapano, Alberico L AL; Descamps, Olivier S OS; Fisher, Edward E; Kovanen, Petri T PT; Kuivenhoven, Jan Albert JA; Lesnik, Philippe P; Masana, Luis L; Nordestgaard, Børge G BG; Ray, Kausik K KK; Reiner, Zeljko Z; Taskinen, Marja-Riitta MR; Tokgözoglu, Lale L; Tybjærg-Hansen, Anne A; Watts, Gerald F GF; ,
Publication Date: 2011-06

Variant appearance in text: PC: I405V
PubMed Link: 21531743
Variant Present in the following documents:
  • ehr112.pdf
View BVdb publication page



Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease.

Journal Of Lipid Research
Peloso, Gina M GM; Demissie, Serkalem S; Collins, Dorothea D; Mirel, Daniel B DB; Gabriel, Stacey B SB; Cupples, L Adrienne LA; Robins, Sander J SJ; Schaefer, Ernst J EJ; Brousseau, Margaret E ME
Publication Date: 2010-12

Variant appearance in text: PC: I405V
PubMed Link: 20855565
Variant Present in the following documents:
  • Main text
View BVdb publication page