LPL c.*1848C>G

Variant ID: 8-19824669-C-G

NM_000237.2(LPL):c.*1848C>G

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs3866471
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



LPL, FNDC5 and PPARγ gene polymorphisms related to body composition parameters and lipid metabolic profile in adolescents from Southern Italy.

Journal Of Translational Medicine
Perrone, Benedetta B; Ruffo, Paola P; Zelasco, Samanta S; Giordano, Cinzia C; Morelli, Catia C; Barone, Ines I; Catalano, Stefania S; Andò, Sebastiano S; Sisci, Diego D; Tripepi, Giovanni G; Mammì, Corrado C; Bonofiglio, Daniela D; Conforti, Francesca Luisa FL
Publication Date: 2022-03-03

Variant appearance in text: rs3866471
PubMed Link: 35241092
Variant Present in the following documents:
  • Main text
  • 12967_2022_Article_3314.pdf
  • 12967_2022_3314_MOESM2_ESM.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs3866471
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A novel LPL intronic variant: g.18704C>A identified by re-sequencing Kuwaiti Arab samples is associated with high-density lipoprotein, very low-density lipoprotein and triglyceride lipid levels.

Plos One
Al-Bustan, Suzanne A SA; Al-Serri, Ahmad A; Annice, Babitha G BG; Alnaqeeb, Majed A MA; Al-Kandari, Wafa Y WY; Dashti, Mohammed M
Publication Date: 2018

Variant appearance in text: rs3866471
PubMed Link: 29438437
Variant Present in the following documents:
  • pone.0192617.s002.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs3866471
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Association of lipoprotein lipase (LPL) single nucleotide polymorphisms with type 2 diabetes mellitus.

Experimental & Molecular Medicine
Cho, Yoon Shin YS; Go, Min Jin MJ; Han, Hye Ree HR; Cha, Seung Hun SH; Kim, Hung Tae HT; Min, Haesook H; Shin, Hyoung Doo HD; Park, Chan C; Han, Bok Ghee BG; Cho, Nam Han NH; Shin, Chol C; Kimm, Kuchan K; Oh, Bermseok B
Publication Date: 2008-10-31

Variant appearance in text: rs3866471
PubMed Link: 18985010
Variant Present in the following documents:
  • Main text
View BVdb publication page



Linkage disequilibrium grouping of single nucleotide polymorphisms (SNPs) reflecting haplotype phylogeny for efficient selection of tag SNPs.

Genetics
Takeuchi, Fumihiko F; Yanai, Kazuyuki K; Morii, Toshiyuki T; Ishinaga, Yuji Y; Taniguchi-Yanai, Keiko K; Nagano, Shinobu S; Kato, Norihiro N
Publication Date: 2005-05

Variant appearance in text: rs3866471
PubMed Link: 15716494
Variant Present in the following documents:
  • Main text
View BVdb publication page