APOB c.3850C>T ;(p.R1284W)

Variant ID: 2-21236398-G-A

NM_000384.2(APOB):c.3850C>T;(p.R1284W)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: APOB: 3850C>T; Arg1284Trp
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
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: APOB: 3850C>T; R1284W
PubMed Link: 30420299
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research
Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM
Publication Date: 2018-10

Variant appearance in text: rs376768346
PubMed Link: 30076208
Variant Present in the following documents:
  • 10.1194_P086710_jlr.P086710-4.xlsx, sheet 1
View BVdb publication page



Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia.

Leukemia
Vesely, C C; Frech, C C; Eckert, C C; Cario, G G; Mecklenbräuker, A A; Zur Stadt, U U; Nebral, K K; Kraler, F F; Fischer, S S; Attarbaschi, A A; Schuster, M M; Bock, C C; Cavé, H H; von Stackelberg, A A; Schrappe, M M; Horstmann, M A MA; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R
Publication Date: 2017-07

Variant appearance in text: APOB: R1284W
PubMed Link: 27899802
Variant Present in the following documents:
  • leu2016365x3.xlsx, sheet 1
View BVdb publication page