TG c.754T>G ;(p.L252V)

Variant ID: 8-133894722-T-G

NM_003235.4(TG):c.754T>G;(p.L252V)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: TG: 754T>G
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Endothelial alpha globin is a nitrite reductase.

Nature Communications
Keller, T C Stevenson TCS; Lechauve, Christophe C; Keller, Alexander S AS; Broseghini-Filho, Gilson Brás GB; Butcher, Joshua T JT; Askew Page, Henry R HR; Islam, Aditi A; Tan, Zhe Yin ZY; DeLalio, Leon J LJ; Brooks, Steven S; Sharma, Poonam P; Hong, Kwangseok K; Xu, Wenhao W; Padilha, Alessandra Simão AS; Ruddiman, Claire A CA; Best, Angela K AK; Macal, Edgar E; Kim-Shapiro, Daniel B DB; Christ, George G; Yan, Zhen Z; Cortese-Krott, Miriam M MM; Ricart, Karina K; Patel, Rakesh R; Bender, Timothy P TP; Sonkusare, Swapnil K SK; Weiss, Mitchell J MJ; Ackerman, Hans H; Columbus, Linda L; Isakson, Brant E BE
Publication Date: 2022-10-27

Variant appearance in text: TG: 754T>G
PubMed Link: 36302779
Variant Present in the following documents:
  • 41467_2022_34154_MOESM3_ESM.xlsx, sheet 10
View BVdb publication page



Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases.

Bmc Pediatrics
Wu, Yun Qin YQ; Hu, Yue Yuan YY; Li, Gui Nan GN
Publication Date: 2021-09-20

Variant appearance in text: TG: Leu252Val
PubMed Link: 34544385
Variant Present in the following documents:
  • 12887_2021_Article_2875.pdf
View BVdb publication page



A Novel Lipoprotein Lipase Mutation in an Infant With Glycogen Storage Disease Type-Ib and Severe Hypertriglyceridemia.

Frontiers In Pediatrics
Wang, Fengyu F; Wang, Fengli F; Zhou, Xiaojun X; Yi, Yingjie Y; Zhao, Jie J
Publication Date: 2021

Variant appearance in text: TG: L252V
PubMed Link: 34485189
Variant Present in the following documents:
  • Main text
  • fped-09-671536.pdf
View BVdb publication page



Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications
Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G
Publication Date: 2021-08-31

Variant appearance in text: TG: 754T>G
PubMed Link: 34465776
Variant Present in the following documents:
  • 41467_2021_25405_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Digenic Inheritance and Gene-Environment Interaction in a Patient With Hypertriglyceridemia and Acute Pancreatitis.

Frontiers In Genetics
Yang, Qi Q; Pu, Na N; Li, Xiao-Yao XY; Shi, Xiao-Lei XL; Chen, Wei-Wei WW; Zhang, Guo-Fu GF; Hu, Yue-Peng YP; Zhou, Jing J; Chen, Fa-Xi FX; Li, Bai-Qiang BQ; Tong, Zhi-Hui ZH; Férec, Claude C; Cooper, David N DN; Chen, Jian-Min JM; Li, Wei-Qin WQ
Publication Date: 2021

Variant appearance in text: TG: Leu252VaL
PubMed Link: 34040631
Variant Present in the following documents:
  • fgene-12-640859.pdf
View BVdb publication page



Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy.

Molecular Genetics & Genomic Medicine
Shi, Xiao-Lei XL; Yang, Qi Q; Pu, Na N; Li, Xiao-Yao XY; Chen, Wei-Wei WW; Zhou, Jing J; Li, Gang G; Tong, Zhi-Hui ZH; Férec, Claude C; Cooper, David N DN; Chen, Jian-Min JM; Li, Wei-Qin WQ
Publication Date: 2020-03

Variant appearance in text: TG: Leu252VaL
PubMed Link: 31962008
Variant Present in the following documents:
  • MGG3-8-e1048.pdf
View BVdb publication page



Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis.

Journal Of Cellular And Molecular Medicine
Han, Peng P; Wei, Guohong G; Cai, Ke K; Xiang, Xi X; Deng, Wang Ping WP; Li, Yan Bing YB; Kuang, Shan S; Dong, Zhanying Z; Zheng, Tianyu T; Luo, Yonglun Y; Liu, Junnian J; Guan, Yuanning Y; Li, Chen C; Dey, Subrata Kumar SK; Liao, Zhihong Z; Banerjee, Santasree S
Publication Date: 2020-01

Variant appearance in text: TG: Leu252Val
PubMed Link: 31901151
Variant Present in the following documents:
  • JCMM-24-1286.pdf
View BVdb publication page



Transcriptomic signature reveals mechanism of flower bud distortion in witches'-broom disease of soybean (Glycine max).

Bmc Plant Biology
Jaiswal, Sarika S; Jadhav, Pravin V PV; Jasrotia, Rahul Singh RS; Kale, Prashant B PB; Kad, Snehal K SK; Moharil, Mangesh P MP; Dudhare, Mahendra S MS; Kheni, Jashminkumar J; Deshmukh, Amit G AG; Mane, Shyamsundar S SS; Nandanwar, Ravindra S RS; Penna, Suprasanna S; Manjaya, Joy G JG; Iquebal, Mir Asif MA; Tomar, Rukam Singh RS; Kawar, Prashant G PG; Rai, Anil A; Kumar, Dinesh D
Publication Date: 2019-01-15

Variant appearance in text: TG: Leu252Val
PubMed Link: 30646861
Variant Present in the following documents:
  • 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Abruptio Placentae Caused by Hypertriglyceridemia-Induced Acute Pancreatitis during Pregnancy: Case Report and Literature Review.

Case Reports In Obstetrics And Gynecology
Yalcin Bahat, Pınar P; Turan, Gokce G; Aslan Cetin, Berna B
Publication Date: 2018

Variant appearance in text: TG: Leu252VaL
PubMed Link: 30254776
Variant Present in the following documents:
  • CRIOG2018-3869695.pdf
View BVdb publication page



Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis.

Lipids In Health And Disease
Li, Xiaoyao X; Yang, Qi Q; Shi, Xiaolei X; Chen, Weiwei W; Pu, Na N; Li, Weiqin W; Li, Jieshou J
Publication Date: 2018-06-19

Variant appearance in text: TG: Leu252Val
PubMed Link: 29921298
Variant Present in the following documents:
  • 12944_2018_Article_789.pdf
View BVdb publication page



Human gastric cancer modelling using organoids.

Gut
Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE
Publication Date: 2019-02

Variant appearance in text: TG: 754T>G
PubMed Link: 29703791
Variant Present in the following documents:
  • gutjnl-2017-314549supp010.xlsx, sheet 3
View BVdb publication page



Rare LPL gene missense mutation in an infant with hypertriglyceridemia.

Journal Of Clinical Laboratory Analysis
Qin, Yuan-Yuan YY; Wei, Ai-Qiu AQ; Shan, Qing-Wen QW; Xian, Xiao-Ying XY; Wu, Yang-Yang YY; Liao, Lin L; Yan, Jie J; Lai, Zhan-Feng ZF; Lin, Fa-Quan FQ
Publication Date: 2018-07

Variant appearance in text: TG: Leu252Val
PubMed Link: 29479812
Variant Present in the following documents:
  • Main text
View BVdb publication page



Overproduction of active efflux pump and variations of OprD dominate in imipenem-resistant Pseudomonas aeruginosa isolated from patients with bloodstream infections in Taiwan.

Bmc Microbiology
Kao, Cheng-Yen CY; Chen, Shu-Sheng SS; Hung, Kuei-Hsiang KH; Wu, Hsiu-Mei HM; Hsueh, Po-Ren PR; Yan, Jing-Jou JJ; Wu, Jiunn-Jong JJ
Publication Date: 2016-06-13

Variant appearance in text: TG: L252V
PubMed Link: 27296461
Variant Present in the following documents:
  • Main text
  • 12866_2016_Article_719.pdf
View BVdb publication page