LPA c.2969G>T ;(p.R990L)

Variant ID: 6-161022107-C-A

NM_005577.2(LPA):c.2969G>T;(p.R990L)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Lipoprotein(a) and stroke: a two-sample Mendelian randomization study.

Frontiers In Aging Neuroscience
Huang, Yi Y; Zhang, Ruijie R; Han, Liyuan L; Wu, Yiwen Y; Deng, Xinpeng X; Xu, Tianqi T; Wu, Yuefei Y; Gao, Xiang X; Zhou, Chenhui C; Sun, Jie J
Publication Date: 2023

Variant appearance in text: rs41259144
PubMed Link: 37251802
Variant Present in the following documents:
  • Main text
  • fnagi-15-1178079.pdf
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Lipoprotein(a): Cardiovascular Disease, Aortic Stenosis and New Therapeutic Option.

International Journal Of Molecular Sciences
Maloberti, Alessandro A; Fabbri, Saverio S; Colombo, Valentina V; Gualini, Elena E; Monticelli, Massimiliano M; Daus, Francesca F; Busti, Andrea A; Galasso, Michele M; De Censi, Lorenzo L; Algeri, Michela M; Merlini, Piera Angelica PA; Giannattasio, Cristina C
Publication Date: 2022-12-22

Variant appearance in text: rs41259144
PubMed Link: 36613613
Variant Present in the following documents:
  • Main text
  • ijms-24-00170.pdf
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Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Journal Of Lipid Research
Dong, Weilai W; Wong, Karen H Y KHY; Liu, Youbin Y; Levy-Sakin, Michal M; Hung, Wei-Chien WC; Li, Mo M; Li, Boyang B; Jin, Sheng Chih SC; Choi, Jungmin J; Lopez-Giraldez, Francesc F; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Movsesyan, Irina I; Malloy, Mary J MJ; Zhao, Hongyu H; Kwok, Pui-Yan PY; Kane, John P JP; Lifton, Richard P RP; Pullinger, Clive R CR
Publication Date: 2022-06

Variant appearance in text: rs41259144
PubMed Link: 35460704
Variant Present in the following documents:
  • mmc1.pdf
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Clinical Utility of Lipoprotein(a) and LPA Genetic Risk Score in Risk Prediction of Incident Atherosclerotic Cardiovascular Disease.

Jama Cardiology
Trinder, Mark M; Uddin, Md Mesbah MM; Finneran, Phoebe P; Aragam, Krishna G KG; Natarajan, Pradeep P
Publication Date: 2020-10-06

Variant appearance in text: rs41259144
PubMed Link: 33021622
Variant Present in the following documents:
  • jamacardiol-e205398-s001.pdf
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Association of Long-term Exposure to Elevated Lipoprotein(a) Levels With Parental Life Span, Chronic Disease-Free Survival, and Mortality Risk: A Mendelian Randomization Analysis.

Jama Network Open
Arsenault, Benoit J BJ; Pelletier, William W; Kaiser, Yannick Y; Perrot, Nicolas N; Couture, Christian C; Khaw, Kay-Tee KT; Wareham, Nicholas J NJ; Bossé, Yohan Y; Pibarot, Philippe P; Stroes, Erik S G ESG; Mathieu, Patrick P; Thériault, Sébastien S; Boekholdt, S Matthijs SM
Publication Date: 2020-02-05

Variant appearance in text: rs41259144
PubMed Link: 32108890
Variant Present in the following documents:
  • jamanetwopen-3-e200129-s001.pdf
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A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms.

Journal Of Lipid Research
Mack, Salome S; Coassin, Stefan S; Rueedi, Rico R; Yousri, Noha A NA; Seppälä, Ilkka I; Gieger, Christian C; Schönherr, Sebastian S; Forer, Lukas L; Erhart, Gertraud G; Marques-Vidal, Pedro P; Ried, Janina S JS; Waeber, Gerard G; Bergmann, Sven S; Dähnhardt, Doreen D; Stöckl, Andrea A; Raitakari, Olli T OT; Kähönen, Mika M; Peters, Annette A; Meitinger, Thomas T; Strauch, Konstantin K; , ; Kedenko, Ludmilla L; Paulweber, Bernhard B; Lehtimäki, Terho T; Hunt, Steven C SC; Vollenweider, Peter P; Lamina, Claudia C; Kronenberg, Florian F
Publication Date: 2017-09

Variant appearance in text: rs41259144
PubMed Link: 28512139
Variant Present in the following documents:
  • Main text
  • jlrM076232.pdf
View BVdb publication page



A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms.

Journal Of Lipid Research
Mack, Salome S; Coassin, Stefan S; Rueedi, Rico R; Yousri, Noha A NA; Seppälä, Ilkka I; Gieger, Christian C; Schönherr, Sebastian S; Forer, Lukas L; Erhart, Gertraud G; Marques-Vidal, Pedro P; Ried, Janina S JS; Waeber, Gerard G; Bergmann, Sven S; Dähnhardt, Doreen D; Stöckl, Andrea A; Raitakari, Olli T OT; Kähönen, Mika M; Peters, Annette A; Meitinger, Thomas T; Strauch, Konstantin K; Kedenko, Ludmilla L; Paulweber, Bernhard B; Lehtimäki, Terho T; Hunt, Steven C SC; Vollenweider, Peter P; Lamina, Claudia C; Kronenberg, Florian F
Publication Date: 2017-09

Variant appearance in text: rs41259144
PubMed Link: 28512139
Variant Present in the following documents:
  • Main text
  • jlrM076232.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs41259144
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page