Variant ID: 2-21229446-G-C

NM_000384.2(APOB):c.10294C>G;(p.Q3432E)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: APOB: Q3432E
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx
View BVdb publication page



Molecular predictors of response to pembrolizumab in thymic carcinoma.

Cell Reports. Medicine
He, Yongfeng Y; Ramesh, Archana A; Gusev, Yuriy Y; Bhuvaneshwar, Krithika K; Giaccone, Giuseppe G
Publication Date: 2021-09-21

Variant appearance in text: APOB: Q3432E
PubMed Link: 34622229
Variant Present in the following documents:
  • mmc3.xlsx
View BVdb publication page



Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics
Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA
Publication Date: 2021-02

Variant appearance in text: APOB: 10294C>G; Gln3432Glu; rs1042023
PubMed Link: 33462484
Variant Present in the following documents:
  • NIHMS1651539-supplement-2.xlsx
View BVdb publication page



Multiple rare and common variants in APOB gene locus associated with oxidatively modified low-density lipoprotein levels.

Plos One
Khlebus, Eleonora E; Kutsenko, Vladimir V; Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Shevtsov, Anton A; Shcherbakova, Natalia N; Zharikova, Anastasiia A; Lankin, Vadim V; Tikhaze, Alla A; Chazova, Irina I; Yarovaya, Elena E; Drapkina, Oksana O; Boytsov, Sergey S
Publication Date: 2019

Variant appearance in text: APOB: Gln3432Glu; rs1042023
PubMed Link: 31150472
Variant Present in the following documents:
  • Main text
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: APOB: Q3432E; rs1042023
PubMed Link: 30076208
Variant Present in the following documents:
  • Main text
View BVdb publication page



Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Journal Of Lipid Research
Wintjens, René R; Bozon, Dominique D; Belabbas, Khaldia K; MBou, Félicien F; Girardet, Jean-Philippe JP; Tounian, Patrick P; Jolly, Mathilde M; Boccara, Franck F; Cohen, Ariel A; Karsenty, Alexandra A; Dubern, Béatrice B; Carel, Jean-Claude JC; Azar-Kolakez, Ahlam A; Feillet, François F; Labarthe, François F; Gorsky, Anne-Marie Colin AM; Horovitz, Alice A; Tamarindi, Catherine C; Kieffer, Pierre P; Lienhardt, Anne A; Lascols, Olivier O; Di Filippo, Mathilde M; Dufernez, Fabienne F
Publication Date: 2016-03

Variant appearance in text: APOB: Gln3432Glu
PubMed Link: 26802169
Variant Present in the following documents:
  • Main text
View BVdb publication page