APOB c.1051C>A ;(p.L351M)

Variant ID: 2-21256244-G-T

NM_000384.2(APOB):c.1051C>A;(p.L351M)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants.

International Journal Of Molecular Sciences
Vanhoye, Xavier X; Janin, Alexandre A; Caillaud, Amandine A; Rimbert, Antoine A; Venet, Fabienne F; Gossez, Morgane M; Dijk, Wieneke W; Marmontel, Oriane O; Nony, Séverine S; Chatelain, Charlotte C; Durand, Christine C; Lindenbaum, Pierre P; Rieusset, Jennifer J; Cariou, Bertrand B; Moulin, Philippe P; Di Filippo, Mathilde M
Publication Date: 2022-04-13

Variant appearance in text: APOB: Leu351Met
PubMed Link: 35457099
Variant Present in the following documents:
  • Main text
  • ijms-23-04281.pdf
View BVdb publication page



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: 1051C>A; Leu351Met
PubMed Link: 34341098
Variant Present in the following documents:
  • openhrt-2021-001710supp001.xlsx, sheet 1
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: APOB: L351M
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM5_ESM.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