LPL c.1227G>A ;(p.W409*)

Variant ID: 8-19818499-G-A

NM_000237.2(LPL):c.1227G>A;(p.W409*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: LPL: 1227G>A; Trp409Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis.

Lipids In Health And Disease
Li, Xiao-Yao XY; Pu, Na N; Chen, Wei-Wei WW; Shi, Xiao-Lei XL; Zhang, Guo-Fu GF; Ke, Lu L; Ye, Bo B; Tong, Zhi-Hui ZH; Wang, Yu-Hui YH; Liu, George G; Chen, Jian-Min JM; Yang, Qi Q; Li, Wei-Qin WQ; Li, Jie-Shou JS
Publication Date: 2020-04-07

Variant appearance in text: LPL: Trp409*
PubMed Link: 32264896
Variant Present in the following documents:
  • Main text
  • 12944_2020_Article_1249.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; FĂ©rec, Claude C; Cooper, David N DN; Chen, Jian-Min JM; Li, Wei-Qin WQ
Publication Date: 2020-03

Variant appearance in text: LPL: 1227G>A; Trp409*
PubMed Link: 31962008
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1048.pdf
View BVdb publication page



Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp
Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N
Publication Date: 2016-11

Variant appearance in text: LPL: 1227G>A; Trp409Ter
PubMed Link: 27697855
Variant Present in the following documents:
  • 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5
View BVdb publication page