LPL c.836T>G ;(p.L279R)

Variant ID: 8-19813412-T-G

NM_000237.2(LPL):c.836T>G;(p.L279R)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency.

Frontiers In Genetics
Li, Yakun Y; Hu, Man M; Han, Lin L; Feng, Lifang L; Yang, Luhong L; Chen, Xiaoqian X; Du, Tingting T; Yao, Hui H; Chen, Xiaohong X
Publication Date: 2022

Variant appearance in text: LPL: 836T>G; L279R
PubMed Link: 35309119
Variant Present in the following documents:
  • Main text
  • fgene-13-831133.pdf
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: LPL: 836T>G; Leu279Arg
PubMed Link: 34544385
Variant Present in the following documents:
  • Main text
  • 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: LPL: 836T>G; Leu279Arg
PubMed Link: 34485189
Variant Present in the following documents:
  • Main text
  • fped-09-671536.pdf
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: LPL: L279R
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: LPL: 836T>G; Leu279Arg
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: LPL: 836T>G; Leu279Arg
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis.

Ebiomedicine
Jin, Jing-Lu JL; Sun, Di D; Cao, Ye-Xuan YX; Zhang, Hui-Wen HW; Guo, Yuan-Lin YL; Wu, Na-Qiong NQ; Zhu, Cheng-Gang CG; Gao, Ying Y; Dong, Qiu-Ting QT; Liu, Geng G; Dong, Qian Q; Li, Jian-Jun JJ
Publication Date: 2018-12

Variant appearance in text: LPL: 836T>G; L279R
PubMed Link: 30420299
Variant Present in the following documents:
  • mmc1.pdf
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: LPL: 836T>G; Leu279Arg
PubMed Link: 29479812
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical, biochemical and molecular analysis of two infants with familial chylomicronemia syndrome.

Lipids In Health And Disease
Zhang, Yonghong Y; Zhou, Jing J; Zheng, Wenxin W; Lan, Zhangzhang Z; Huang, Zhiwei Z; Yang, Qingnan Q; Liu, Chengbo C; Gao, Rui R; Zhang, Yongjun Y
Publication Date: 2016-05-06

Variant appearance in text: LPL: Leu279Arg
PubMed Link: 27153815
Variant Present in the following documents:
  • Main text
  • 12944_2016_Article_254.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: LPL: L279R; rs35414700
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: LPL: L279R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page