Variant ID: 11-116633947-G-A

NM_032725.3(BUD13):c.358C>T;(p.Arg120Cys)

This variant was identified in 13 publications




Publications:


The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.

Scientific Reports
S Moon, YJ Kim, S Han, MY Hwang, DM Shin, MY Park, Y Lu, K Yoon, HM Jang, YK Kim, TJ Park, DS Song, JK Park, JE Lee, BJ Kim
Publication Date: 2019-02-04

Variant appearance in text: rs10488698
PubMed Link: 30718733
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

Nature Communications
TO Kilpeläinen, AR Bentley, R Noordam, YJ Sung, K Schwander, TW Winkler, H Jakupović, DI Chasman, A Manning, I Ntalla, H Aschard, MR Brown, L de Las Fuentes, N Franceschini, X Guo, D Vojinovic, S Aslibekyan, MF Feitosa, M Kho, SK Musani, M Richard, H Wang, Z Wang, TM Bartz, LF Bielak, A Campbell, R Dorajoo, V Fisher, FP Hartwig, ARVR Horimoto, C Li, KK Lohman, J Marten, X Sim, AV Smith, SM Tajuddin, M Alver, M Amini, M Boissel, JF Chai, X Chen, J Divers, E Evangelou, C Gao, M Graff, SE Harris, M He, FC Hsu, AU Jackson, JH Zhao, AT Kraja, B Kühnel, F Laguzzi, LP Lyytikäinen, IM Nolte, R Rauramaa, M Riaz, A Robino, R Rueedi, HM Stringham, F Takeuchi, PJ van der Most, TV Varga, N Verweij, EB Ware, W Wen, X Li, LR Yanek, N Amin, DK Arnett, E Boerwinkle, M Brumat, B Cade, M Canouil, YI Chen, MP Concas, J Connell, R de Mutsert, HJ de Silva, PS de Vries, A Demirkan, J Ding, CB Eaton, JD Faul, Y Friedlander, KP Gabriel, M Ghanbari, F Giulianini, CC Gu, D Gu, TB Harris, J He, S Heikkinen, CK Heng, SC Hunt, MA Ikram, JB Jonas, WP Koh, P Komulainen, JE Krieger, SB Kritchevsky, Z Kutalik, J Kuusisto, CD Langefeld, C Langenberg, LJ Launer, K Leander, RN Lemaitre, CE Lewis, J Liang, , J Liu, R Mägi, A Manichaikul, T Meitinger, A Metspalu, Y Milaneschi, KL Mohlke, TH Mosley, AD Murray, MA Nalls, EK Nang, CP Nelson, S Nona, JM Norris, CV Nwuba, J O'Connell, ND Palmer, GJ Papanicolau, R Pazoki, NL Pedersen, A Peters, PA Peyser, O Polasek, DJ Porteous, A Poveda, OT Raitakari, SS Rich, N Risch, JG Robinson, LM Rose, I Rudan, PJ Schreiner, RA Scott, SS Sidney, M Sims, JA Smith, H Snieder, T Sofer, JM Starr, B Sternfeld, K Strauch, H Tang, KD Taylor, MY Tsai, J Tuomilehto, AG Uitterlinden, MY van der Ende, D van Heemst, T Voortman, M Waldenberger, P Wennberg, G Wilson, YB Xiang, J Yao, C Yu, JM Yuan, W Zhao, AB Zonderman, DM Becker, M Boehnke, DW Bowden, U de Faire, IJ Deary, P Elliott, T Esko, BI Freedman, P Froguel, P Gasparini, C Gieger, N Kato, M Laakso, TA Lakka, T Lehtimäki, PKE Magnusson, AJ Oldehinkel, BWJH Penninx, NJ Samani, XO Shu, P van der Harst, JV Van Vliet-Ostaptchouk, P Vollenweider, LE Wagenknecht, YX Wang, NJ Wareham, DR Weir, T Wu, W Zheng, X Zhu, MK Evans, PW Franks, V Gudnason, C Hayward, BL Horta, TN Kelly, Y Liu, KE North, AC Pereira, PM Ridker, ES Tai, RM van Dam, ER Fox, SLR Kardia, CT Liu, DO Mook-Kanamori, MA Province, S Redline, CM van Duijn, JI Rotter, CB Kooperberg, WJ Gauderman, BM Psaty, K Rice, PB Munroe, M Fornage, LA Cupples, CN Rotimi, AC Morrison, DC Rao, RJF Loos
Publication Date: 2019-01-22

Variant appearance in text: rs10488698
PubMed Link: 30670697
Variant Present in the following documents:
  • 41467_2018_8008_MOESM10_ESM.xlsx
  • 41467_2018_8008_MOESM12_ESM.xlsx
  • 41467_2018_8008_MOESM7_ESM.xlsx
  • 41467_2018_8008_MOESM9_ESM.xlsx
View BVdb publication page



Functional polymorphisms of the APOA1/C3/A4/A5-ZPR1-BUD13 gene cluster are associated with dyslipidemia in a sex-specific pattern.

Peerj
W Bai, C Kou, L Zhang, Y You, W Yu, W Hua, Y Li, Y Yu, T Zhao, Y Wu
Publication Date: 2019

Variant appearance in text: rs10488698
PubMed Link: 30631647
Variant Present in the following documents:
  • Main text
  • peerj-07-6175-s001.docx
  • peerj-07-6175-s002.docx
  • peerj-07-6175-s004.docx
View BVdb publication page



Genotype-based recall to study metabolic effects of genetic variation: a pilot study of PPARG Pro12Ala carriers.

Upsala Journal Of Medical Sciences
PG Kamble, S Gustafsson, MJ Pereira, P Lundkvist, N Cook, L Lind, PW Franks, T Fall, JW Eriksson, E Ingelsson
Publication Date: 2017-11

Variant appearance in text: rs10488698
PubMed Link: 29303622
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Nature Genetics
X Lu, GM Peloso, DJ Liu, Y Wu, H Zhang, W Zhou, J Li, CS Tang, R Dorajoo, H Li, J Long, X Guo, M Xu, CN Spracklen, Y Chen, X Liu, Y Zhang, CC Khor, J Liu, L Sun, L Wang, YT Gao, Y Hu, K Yu, Y Wang, CYY Cheung, F Wang, J Huang, Q Fan, Q Cai, S Chen, J Shi, X Yang, W Zhao, WH Sheu, SS Cherny, M He, AB Feranil, LS Adair, P Gordon-Larsen, S Du, R Varma, YI Chen, XO Shu, KSL Lam, TY Wong, SK Ganesh, Z Mo, K Hveem, LG Fritsche, JB Nielsen, HF Tse, Y Huo, CY Cheng, YE Chen, W Zheng, ES Tai, W Gao, X Lin, W Huang, G Abecasis, , S Kathiresan, KL Mohlke, T Wu, PC Sham, D Gu, CJ Willer
Publication Date: 2017-12

Variant appearance in text: BUD13: Arg120Cys; rs10488698
PubMed Link: 29083407
Variant Present in the following documents:
  • NIHMS909133-supplement-1.docx
View BVdb publication page



Association of BUD13 polymorphisms with metabolic syndrome in Chinese population: a case-control study.

Lipids In Health And Disease
L Zhang, Y You, Y Wu, Y Zhang, M Wang, Y Song, X Liu, C Kou
Publication Date: 2017-06-28

Variant appearance in text: rs10488698
PubMed Link: 28659142
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association and interaction of APOA5, BUD13, CETP, LIPA and health-related behavior with metabolic syndrome in a Taiwanese population.

Scientific Reports
E Lin, PH Kuo, YL Liu, AC Yang, CF Kao, SJ Tsai
Publication Date: 2016-11-09

Variant appearance in text: rs10488698
PubMed Link: 27827461
Variant Present in the following documents:
  • srep36830-s1.pdf
View BVdb publication page



Distinct Patterns of Association of Variants at 11q23.3 Chromosomal Region with Coronary Artery Disease and Dyslipidemia in the Population of Andhra Pradesh, India.

Plos One
R Pranav Chand, AS Kumar, K Anuj, S Vishnupriya, B Mohan Reddy
Publication Date: 2016

Variant appearance in text: rs10488698
PubMed Link: 27257688
Variant Present in the following documents:
  • pone.0153720.s002.docx
  • pone.0153720.s003.xlsx
View BVdb publication page



Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs.

Scientific Reports
JE Below, EJ Parra, ER Gamazon, J Torres, S Krithika, S Candille, Y Lu, A Manichakul, J Peralta-Romero, Q Duan, Y Li, AP Morris, O Gottesman, E Bottinger, XQ Wang, KD Taylor, YD Ida Chen, JI Rotter, SS Rich, RJ Loos, H Tang, NJ Cox, M Cruz, CL Hanis, A Valladares-Salgado
Publication Date: 2016-01-19

Variant appearance in text: rs10488698
PubMed Link: 26780889
Variant Present in the following documents:
  • srep19429-s3.xls
  • srep19429-s5.xls
View BVdb publication page



Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.

Nature Communications
A Ko, RM Cantor, D Weissglas-Volkov, E Nikkola, PM Reddy, JS Sinsheimer, B Pasaniuc, R Brown, M Alvarez, A Rodriguez, R Rodriguez-Guillen, IC Bautista, O Arellano-Campos, LL Muñoz-Hernández, V Salomaa, J Kaprio, A Jula, M Jauhiainen, M Heliövaara, O Raitakari, T Lehtimäki, JG Eriksson, M Perola, KE Lohmueller, N Matikainen, MR Taskinen, M Rodriguez-Torres, L Riba, T Tusie-Luna, CA Aguilar-Salinas, P Pajukanta
Publication Date: 2014-06-02

Variant appearance in text: rs10488698
PubMed Link: 24886709
Variant Present in the following documents:
  • ncomms4983-s1.pdf
View BVdb publication page



Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data.

Plos One
JD Mosley, SL Van Driest, EK Larkin, PE Weeke, JS Witte, QS Wells, JH Karnes, Y Guo, L Bastarache, LM Olson, CA McCarty, JA Pacheco, GP Jarvik, DS Carrell, EB Larson, DR Crosslin, IJ Kullo, G Tromp, H Kuivaniemi, DJ Carey, MD Ritchie, JC Denny, DM Roden
Publication Date: 2013

Variant appearance in text: rs10488698
PubMed Link: 24349080
Variant Present in the following documents:
  • pone.0081503.s006.xlsx
View BVdb publication page



APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family.

Bmc Medical Genetics
C Dussaillant, V Serrano, A Maiz, S Eyheramendy, LR Cataldo, M Chavez, SV Smalley, M Fuentes, A Rigotti, L Rubio, CF Lagos, JA Martinez, JL Santos
Publication Date: 2012-11-15

Variant appearance in text: rs10488698
PubMed Link: 23151256
Variant Present in the following documents:
  • 1471-2350-13-106-S1.docx
  • aaaaaMain text
View BVdb publication page



Genome-wide association of lipid-lowering response to statins in combined study populations.

Plos One
MJ Barber, LM Mangravite, CL Hyde, DI Chasman, JD Smith, CA McCarty, X Li, RA Wilke, MJ Rieder, PT Williams, PM Ridker, A Chatterjee, JI Rotter, DA Nickerson, M Stephens, RM Krauss
Publication Date: 2010-03-22

Variant appearance in text: rs10488698
PubMed Link: 20339536
Variant Present in the following documents:
  • pone.0009763.s007.xls
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000260210.4 c.358C>T p.Arg120Cys missense_variant 4/10 -
ENST00000375445.3 c.358C>T p.Arg120Cys missense_variant 4/10 -
NM_001159736.1 c.358C>T p.Arg120Cys missense_variant 4/10 -
NM_032725.4 c.358C>T p.Arg120Cys missense_variant 4/10 -