APOB c.1554G>A ;(p.K518=)

Variant ID: 2-21252574-C-T

NM_000384.2(APOB):c.1554G>A;(p.K518=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-Exome Sequencing of Germline Variants in Non-BRCA Families with Hereditary Breast Cancer.

Biomedicines
Liu, Yaxuan Y; Helgadottir, Hafdis T HT; Kharaziha, Pedram P; Choi, Jungmin J; López-Giráldez, Francesc F; Mane, Shrikant M SM; Höiom, Veronica V; Juhlin, Carl Christofer CC; Larsson, Catharina C; Bajalica-Lagercrantz, Svetlana S
Publication Date: 2022-04-26

Variant appearance in text: rs778274241
PubMed Link: 35625741
Variant Present in the following documents:
  • Main text
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: APOB: K518K
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: rs778274241
PubMed Link: 30076208
Variant Present in the following documents:
  • 10.1194_P086710_jlr.P086710-4.xlsx, sheet 1
View BVdb publication page