Variant ID: 2-21229068-G-A

NM_000384.2(APOB):c.10672C>T;(p.R3558C)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Whole Exome Sequencing Reveals Damaging Gene Variants Associated with Hypoalphalipoproteinemia.

Journal Of Lipid Research
Dong, Weilai W; Wong, Karen Hy KH; Liu, Youbin Y; Levy-Sakin, Michal M; Hung, Wei-Chien WC; Li, Mo M; Li, Boyang B; Jin, Sheng Chih SC; Choi, Jungmin J; Lopez-Giraldez, Francesc F; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Movsesyan, Irina I; Malloy, Mary J MJ; Zhao, Hongyu H; Kwok, Pui-Yan PY; Kane, John P JP; Lifton, Richard P RP; Pullinger, Clive R CR
Publication Date: 2022-04-20

Variant appearance in text: APOB: Arg3558Cys; rs12713559
PubMed Link: 35460704
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Familial Hypercholesterolemia: Real-World Data of 1236 Patients Attending a Czech Lipid Clinic. A Retrospective Analysis of Experience in More than 50 years. Part I: Genetics and Biochemical Parameters.

Frontiers In Genetics
Todorovova, Veronika V; Altschmiedova, Tereza T; Vrablik, Michal M; Ceska, Richard R
Publication Date: 2022

Variant appearance in text: APOB: R3558C
PubMed Link: 35295947
Variant Present in the following documents:
  • fgene-13-849008.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02-03

Variant appearance in text: APOB: R3558C; rs12713559
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx
View BVdb publication page



The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics
Kamar, Amina A; Khalil, Athar A; Nemer, Georges G
Publication Date: 2020

Variant appearance in text: APOB: R3558C
PubMed Link: 33519890
Variant Present in the following documents:
  • Main text
  • fgene-11-572045.pdf
View BVdb publication page



The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Genes
Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Zotova, Evgenia E; Sotnikova, Evgeniia E; Petukhova, Anna A; Zharikova, Anastasia A; Malyshev, Pavel P; Rozhkova, Tatyana T; Blokhina, Anastasia A; Limonova, Alena A; Ramensky, Vasily V; Divashuk, Mikhail M; Khasanova, Zukhra Z; Bukaeva, Anna A; Kurilova, Olga O; Skirko, Olga O; Pokrovskaya, Maria M; Mikova, Valeriya V; Snigir, Ekaterina E; Akinshina, Alexsandra A; Mitrofanov, Sergey S; Kashtanova, Daria D; Makarov, Valentin V; Kukharchuk, Valeriy V; Boytsov, Sergey S; Yudin, Sergey S; Drapkina, Oxana O
Publication Date: 2021-01-06

Variant appearance in text: APOB: 10672C>T; Arg3558Cys
PubMed Link: 33418990
Variant Present in the following documents:
  • Main text
  • genes-12-00066.pdf
View BVdb publication page



One4Two®: An Integrated Molecular Approach to Optimize Infertile Couples' Journey.

Genes
D'Argenio, Valeria V; Cariati, Federica F; Tomaiuolo, Rossella R
Publication Date: 2021-01-02

Variant appearance in text: APOB: 10672C>T; Arg3558Cys; rs12713559
PubMed Link: 33401665
Variant Present in the following documents:
  • Main text
  • genes-12-00060.pdf
View BVdb publication page



Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program.

Circulation. Genomic And Precision Medicine
Sun, Yan V YV; Damrauer, Scott M SM; Hui, Qin Q; Assimes, Themistocles L TL; Ho, Yuk-Lam YL; Natarajan, Pradeep P; Klarin, Derek D; Huang, Jie J; Lynch, Julie J; DuVall, Scott L SL; Pyarajan, Saiju S; Honerlaw, Jacqueline P JP; Gaziano, J Michael JM; Cho, Kelly K; Rader, Daniel J DJ; O'Donnell, Christopher J CJ; Tsao, Philip S PS; Wilson, Peter W F PWF
Publication Date: 2018-12

Variant appearance in text: APOB: Arg3558Cys; rs12713559
PubMed Link: 31106297
Variant Present in the following documents:
  • Main text
View BVdb publication page



The panorama of familial hypercholesterolemia in Latin America: a systematic review.

Journal Of Lipid Research
Mehta, Roopa R; Zubirán, Rafael R; Martagón, Alexandro J AJ; Vazquez-Cárdenas, Alejandra A; Segura-Kato, Yayoi Y; Tusié-Luna, María Teresa MT; Aguilar-Salinas, Carlos A CA
Publication Date: 2016-12

Variant appearance in text: APOB: Arg3558Cys
PubMed Link: 27777316
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: Arg3558Cys
PubMed Link: 26802169
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.

Scientific Reports
Fernández-Higuero, J A JA; Etxebarria, A A; Benito-Vicente, A A; Alves, A C AC; Arrondo, J L R JL; Ostolaza, H H; Bourbon, M M; Martin, C C
Publication Date: 2015-12-08

Variant appearance in text: APOB: Arg3558Cys
PubMed Link: 26643808
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia.

Molecular Genetics & Genomic Medicine
Thomas, Ellen R A ER; Atanur, Santosh S SS; Norsworthy, Penny J PJ; Encheva, Vesela V; Snijders, Ambrosius P AP; Game, Laurence L; Vandrovcova, Jana J; Siddiq, Afshan A; Seed, Mary M; Soutar, Anne K AK; Aitman, Timothy J TJ
Publication Date: 2013-09

Variant appearance in text: APOB: Arg3558Cys
PubMed Link: 24498611
Variant Present in the following documents:
  • Main text
View BVdb publication page