APOB c.172G>C ;(p.A58P)

Variant ID: 2-21265298-C-G

NM_000384.2(APOB):c.172G>C;(p.A58P)

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: 172G>C; Ala58Pro
PubMed Link: 34341098
Variant Present in the following documents:
  • openhrt-2021-001710supp001.xlsx, sheet 1
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: APOB: 172G>C; Ala58Pro
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
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