LPL c.1211T>G ;(p.M404R)

Variant ID: 8-19818483-T-G

NM_000237.2(LPL):c.1211T>G;(p.M404R)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Low circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon.

Frontiers In Genetics
Ayoub, Carine C; Azar, Yara Y; Maddah, Dina D; Ghaleb, Youmna Y; Elbitar, Sandy S; Abou-Khalil, Yara Y; Jambart, Selim S; Varret, Mathilde M; Boileau, Catherine C; El Khoury, Petra P; Abifadel, Marianne M
Publication Date: 2022

Variant appearance in text: LPL: Met404Arg
PubMed Link: 36061186
Variant Present in the following documents:
  • Main text
  • fgene-13-961028.pdf
View BVdb publication page



Lipoprotein Lipase and Its Regulators: An Unfolding Story.

Trends In Endocrinology And Metabolism: Tem
Wu, Shuangcheng Alivia SA; Kersten, Sander S; Qi, Ling L
Publication Date: 2021-01

Variant appearance in text: LPL: Met404Arg
PubMed Link: 33277156
Variant Present in the following documents:
  • Main text
View BVdb publication page



Chylomicronemia from GPIHBP1 autoantibodies.

Journal Of Lipid Research
Miyashita, Kazuya K; Lutz, Jens J; Hudgins, Lisa C LC; Toib, Dana D; Ashraf, Ambika P AP; Song, Wenxin W; Murakami, Masami M; Nakajima, Katsuyuki K; Ploug, Michael M; Fong, Loren G LG; Young, Stephen G SG; Beigneux, Anne P AP
Publication Date: 2020-11

Variant appearance in text: LPL: M404R
PubMed Link: 32948662
Variant Present in the following documents:
  • Main text
View BVdb publication page



GPIHBP1 and Lipoprotein Lipase, Partners in Plasma Triglyceride Metabolism.

Cell Metabolism
Young, Stephen G SG; Fong, Loren G LG; Beigneux, Anne P AP; Allan, Christopher M CM; He, Cuiwen C; Jiang, Haibo H; Nakajima, Katsuyuki K; Meiyappan, Muthuraman M; Birrane, Gabriel G; Ploug, Michael M
Publication Date: 2019-07-02

Variant appearance in text: LPL: M404R
PubMed Link: 31269429
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure of the lipoprotein lipase-GPIHBP1 complex that mediates plasma triglyceride hydrolysis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Birrane, Gabriel G; Beigneux, Anne P AP; Dwyer, Brian B; Strack-Logue, Bettina B; Kristensen, Kristian Kølby KK; Francone, Omar L OL; Fong, Loren G LG; Mertens, Haydyn D T HDT; Pan, Clark Q CQ; Ploug, Michael M; Young, Stephen G SG; Meiyappan, Muthuraman M
Publication Date: 2019-01-29

Variant appearance in text: LPL: M404R
PubMed Link: 30559189
Variant Present in the following documents:
  • Main text
  • pnas.201817984.pdf
View BVdb publication page