APOB c.2914G>A ;(p.G972S)

Variant ID: 2-21242680-C-T

NM_000384.2(APOB):c.2914G>A;(p.G972S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Protective lipid-lowering variants in healthy older individuals without coronary heart disease.

Open Heart
Lacaze, Paul P; Riaz, Moeen M; Sebra, Robert R; Hooper, Amanda J AJ; Pang, Jing J; Tiller, Jane J; Polekhina, Galina G; Tonkin, Andrew A; Reid, Chris C; Zoungas, Sophia S; Murray, Anne M AM; Nicholls, Stephen S; Watts, Gerald G; Schadt, Eric E; McNeil, John J JJ
Publication Date: 2021-07

Variant appearance in text: APOB: 2914G>A; Gly972Ser; rs199893862
PubMed Link: 34341098
Variant Present in the following documents:
  • openhrt-2021-001710supp001.xlsx, sheet 1
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: rs199893862
PubMed Link: 30076208
Variant Present in the following documents:
  • 10.1194_P086710_jlr.P086710-4.xlsx, sheet 1
View BVdb publication page



Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B.

The Journal Of Biological Chemistry
Zhong, Shumei S; Magnolo, Antonia Lucia AL; Sundaram, Meenakshi M; Zhou, Hu H; Yao, Erik F EF; Di Leo, Enza E; Loria, Paola P; Wang, Shuai S; Bamji-Mirza, Michelle M; Wang, Lisheng L; McKnight, C Jamie CJ; Figeys, Daniel D; Wang, Yuwei Y; Tarugi, Patrizia P; Yao, Zemin Z
Publication Date: 2010-02-26

Variant appearance in text:
PubMed Link: 20032471
Variant Present in the following documents:
  • Main text
View BVdb publication page