LPL c.133A>T ;(p.T45S)

Variant ID: 8-19805735-A-T

NM_000237.2(LPL):c.133A>T;(p.T45S)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Role of apolipoprotein C1 in lipoprotein metabolism, atherosclerosis and diabetes: a systematic review.

Cardiovascular Diabetology
Rouland, Alexia A; Masson, David D; Lagrost, Laurent L; Vergès, Bruno B; Gautier, Thomas T; Bouillet, Benjamin B
Publication Date: 2022-12-05

Variant appearance in text: LPL: T45S
PubMed Link: 36471375
Variant Present in the following documents:
  • Main text
  • 12933_2022_Article_1703.pdf
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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: LPL: T45S; rs897164454
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Apolipoprotein C1: Its Pleiotropic Effects in Lipid Metabolism and Beyond.

International Journal Of Molecular Sciences
Fuior, Elena V EV; Gafencu, Anca V AV
Publication Date: 2019-11-26

Variant appearance in text: LPL: T45S
PubMed Link: 31779116
Variant Present in the following documents:
  • Main text
  • ijms-20-05939.pdf
View BVdb publication page



Multidimensional regulation of lipoprotein lipase: impact on biochemical and cardiovascular phenotypes.

Journal Of Lipid Research
Hegele, Robert A RA
Publication Date: 2016-09

Variant appearance in text: LPL: T45S
PubMed Link: 27412676
Variant Present in the following documents:
  • Main text
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WAT apoC-I secretion: role in delayed chylomicron clearance in vivo and ex vivo in WAT in obese subjects.

Journal Of Lipid Research
Cyr, Yannick Y; Wassef, Hanny H; Bissonnette, Simon S; Lamantia, Valerie V; Davignon, Jean J; Faraj, May M
Publication Date: 2016-06

Variant appearance in text: LPL: T45S
PubMed Link: 27040450
Variant Present in the following documents:
  • Main text
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Association analysis of dyslipidemia-related genes in diabetic nephropathy.

Plos One
McKay, Gareth J GJ; Savage, David A DA; Patterson, Christopher C CC; Lewis, Gareth G; McKnight, Amy Jayne AJ; Maxwell, Alexander P AP; ,
Publication Date: 2013

Variant appearance in text: LPL: T45S
PubMed Link: 23555584
Variant Present in the following documents:
  • pone.0058472.pdf
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APOC1 T45S polymorphism is associated with reduced obesity indices and lower plasma concentrations of leptin and apolipoprotein C-I in aboriginal Canadians.

Journal Of Lipid Research
Lahiry, Piya P; Cao, Henian H; Ban, Matthew R MR; Pollex, Rebecca L RL; Mamakeesick, Mary M; Zinman, Bernard B; Harris, Stewart B SB; Hanley, Anthony J G AJ; Huff, Murray W MW; Connelly, Philip W PW; Hegele, Robert A RA
Publication Date: 2010-04

Variant appearance in text: LPL: T45S
PubMed Link: 19812053
Variant Present in the following documents:
  • Main text
View BVdb publication page