LPL c.1302A>T ;(p.K434N)

Variant ID: 8-19818574-A-T

NM_000237.2(LPL):c.1302A>T;(p.K434N)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: LPL: K434N
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.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: 1302A>T; Lys434Asn
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



Severe hypertriglyceridemia due to two novel loss-of-function lipoprotein lipase gene mutations (C310R/E396V) in a Chinese family associated with recurrent acute pancreatitis.

Oncotarget
Lun, Yu Y; Sun, Xiaofang X; Wang, Ping P; Chi, Jingwei J; Hou, Xu X; Wang, Yangang Y
Publication Date: 2017-07-18

Variant appearance in text: LPL: K434N
PubMed Link: 28548960
Variant Present in the following documents:
  • Main text
  • oncotarget-08-47741.pdf
View BVdb publication page



Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants.

European Journal Of Human Genetics : Ejhg
Kassner, Ursula U; Salewsky, Bastian B; Wühle-Demuth, Marion M; Szijarto, Istvan Andras IA; Grenkowitz, Thomas T; Binner, Priska P; März, Winfried W; Steinhagen-Thiessen, Elisabeth E; Demuth, Ilja I
Publication Date: 2015-09

Variant appearance in text: LPL: 1302A>T; Lys434Asn; rs587777908
PubMed Link: 25585702
Variant Present in the following documents:
  • Main text
  • ejhg2014295a.pdf
View BVdb publication page