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LPL c.553G>T ;(p.A185S)
Variant ID: 8-19811642-G-T
NM_000237.2(
LPL
):c.553G>T;(p.A185S)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Apolipoprotein A-V is a potential target for treating coronary artery disease: evidence from genetic and metabolomic analyses.
Journal Of Lipid Research
Ibi, Dorina D; Boot, Manon M; Dollé, Martijn E T MET; Jukema, J Wouter JW; Rosendaal, Frits R FR; Christodoulides, Constantinos C; Neville, Matt J MJ; Koivula, Robert R; Rensen, Patrick C N PCN; Karpe, Fredrik F; Noordam, Raymond R; Willems van Dijk, Ko K
Publication Date: 2022-05
Variant appearance in text: LPL: 553G>T
PubMed Link:
35278410
Variant Present in the following documents:
main.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: LPL: 553G>T
PubMed Link:
31901151
Variant Present in the following documents:
Main text
JCMM-24-1286.pdf
View BVdb publication page
The ins (cell) and outs (plasma) of apolipoprotein A-V.
Journal Of Lipid Research
Forte, Trudy M TM; Shu, Xiao X; Ryan, Robert O RO
Publication Date: 2009-04
Variant appearance in text: LPL: 553G>T
PubMed Link:
19050314
Variant Present in the following documents:
Main text
View BVdb publication page