APOB c.8353A>C ;(p.N2785H)

Variant ID: 2-21231387-T-G

NM_000384.2(APOB):c.8353A>C;(p.N2785H)

This variant was identified in 23 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: APOB: N2785H
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: APOB: N2785H; rs2163204
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research
Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z
Publication Date: 2023-01-06

Variant appearance in text: APOB: N2785H; rs2163204
PubMed Link: 36607615
Variant Present in the following documents:
  • can-22-2224_table_s8_suppst8.xlsx, sheet 13
View BVdb publication page



Association between Genetic Polymorphisms and Bleeding in Patients on Direct Oral Anticoagulants.

Pharmaceutics
Yoon, Ha-Young HY; Song, Tae-Jin TJ; Yee, Jeong J; Park, Junbeom J; Gwak, Hye-Sun HS
Publication Date: 2022-09-07

Variant appearance in text: rs2163204
PubMed Link: 36145636
Variant Present in the following documents:
  • Main text
  • pharmaceutics-14-01889.pdf
View BVdb publication page



Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology
Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC
Publication Date: 2022-07-08

Variant appearance in text: APOB: N2785H; rs2163204
PubMed Link: 35802478
Variant Present in the following documents:
  • noac171_suppl_suplementary_table_s7.xlsx, sheet 1
View BVdb publication page



Analysis of the APOB Gene and Apolipoprotein B Serum Levels in a Mexican Population with Acute Coronary Syndrome: Association with the Single Nucleotide Variants rs1469513, rs673548, rs676210, and rs1042034.

Genetics Research
Aceves-Ramírez, Maricela M; Valle, Yeminia Y; Casillas-Muñoz, Fidel F; Martínez-Fernández, Diana Emilia DE; Parra-Reyna, Brenda B; López-Moreno, Víctor Arturo VA; Flores-Salinas, Héctor Enrique HE; Valdés-Alvarado, Emmanuel E; Muñoz-Valle, José Francisco JF; García-Garduño, Texali T; Padilla-Gutiérrez, Jorge Ramón JR
Publication Date: 2022

Variant appearance in text: rs2163204
PubMed Link: 35440891
Variant Present in the following documents:
  • GR2022-4901090.pdf
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: N2785H
PubMed Link: 34622229
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.

Journal Of Atherosclerosis And Thrombosis
Matsunaga, Akira A; Nagashima, Mariko M; Yamagishi, Hideko H; Saku, Keijiro K
Publication Date: 2020-12-01

Variant appearance in text: APOB: 8353A>C; N2785H; rs2163204
PubMed Link: 32115487
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Rare Mutation in The APOB Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia.

International Journal Of Molecular Sciences
Musialik, Joanna J; Boguszewska-Chachulska, Anna A; Pojda-Wilczek, Dorota D; Gorzkowska, Agnieszka A; Szymańczak, Robert R; Kania, Magdalena M; Kujawa-Szewieczek, Agata A; Wojcieszyn, Małgorzata M; Hartleb, Marek M; Więcek, Andrzej A
Publication Date: 2020-02-20

Variant appearance in text: APOB: 8353A>C; Asn2785His; rs2163204
PubMed Link: 32093271
Variant Present in the following documents:
  • Main text
  • ijms-21-01439.pdf
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: APOB: 8353A>C; Asn2785His
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Chinese Medical Journal
Liu, Shuang S; You, Yan Y; Chen, Dan D; Qian, Jia-Ming JM; Li, Ji J
Publication Date: 2019-12-20

Variant appearance in text: APOB: N2785H; rs2163204
PubMed Link: 31764169
Variant Present in the following documents:
  • cm9-132-3001-s001.xlsx, sheet 1
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: APOB: N2785H
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 52
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 49
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 43
View BVdb publication page



Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

Plos One
Lee, Chan Joo CJ; Lee, Yunbeom Y; Park, Sungha S; Kang, Seok-Min SM; Jang, Yangsoo Y; Lee, Ji Hyun JH; Lee, Sang-Hak SH
Publication Date: 2017

Variant appearance in text: APOB: N2785H; rs2163204
PubMed Link: 29036232
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of MTTP gene variants with pediatric NAFLD: A candidate-gene-based analysis of single nucleotide variations in obese children.

Plos One
Dai, Dongling D; Wen, Feiqiu F; Zhou, Shaoming S; Su, Zhe Z; Liu, Guosheng G; Wang, Mingbang M; Zhou, Jianli J; He, Fusheng F
Publication Date: 2017

Variant appearance in text: APOB: 8353A>C; N2785H; rs2163204
PubMed Link: 28953935
Variant Present in the following documents:
  • pone.0185396.s001.xls, sheet 1
  • pone.0185396.s001.xls, sheet 4
  • pone.0185396.s001.xls, sheet 6
  • pone.0185396.s001.xls, sheet 7
  • pone.0185396.s001.xls, sheet 5
  • pone.0185396.s001.xls, sheet 3
  • pone.0185396.s001.xls, sheet 2
View BVdb publication page



Association between polymorphisms in the APOB gene and hyperlipidemia in the Chinese Yugur population.

Brazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas
Gu, Q-L QL; Han, Y Y; Lan, Y-M YM; Li, Y Y; Kou, W W; Zhou, Y-S YS; Hai, X-J XJ; Yan, B B; Ci, C-H CH
Publication Date: 2017-09-12

Variant appearance in text: rs2163204
PubMed Link: 28902930
Variant Present in the following documents:
  • Main text
  • 1414-431X-bjmbr-1414-431X20176613.pdf
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: APOB: N2785H; rs2163204
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x4.xls, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs2163204
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: APOB: N2785H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: APOB: N2785H; rs2163204
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Exome sequencing of three cases of familial exceptional longevity.

Aging Cell
Cash, Timothy P TP; Pita, Guillermo G; Domínguez, Orlando O; Alonso, Maria R MR; Moreno, Leticia T LT; Borrás, Consuelo C; Rodríguez-Mañas, Leocadio L; Santiago, Catalina C; Garatachea, Nuria N; Lucia, Alejandro A; Avellana, Juan A JA; Viña, Jose J; González-Neira, Anna A; Serrano, Manuel M
Publication Date: 2014-12

Variant appearance in text: rs2163204
PubMed Link: 25116423
Variant Present in the following documents:
  • Main text
  • acel0013-1087.pdf
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: APOB: N2785H; rs2163204
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
View BVdb publication page



Genetic variation in healthy oldest-old.

Plos One
Halaschek-Wiener, Julius J; Amirabbasi-Beik, Mahsa M; Monfared, Nasim N; Pieczyk, Markus M; Sailer, Christian C; Kollar, Anita A; Thomas, Ruth R; Agalaridis, Georgios G; Yamada, So S; Oliveira, Lisa L; Collins, Jennifer A JA; Meneilly, Graydon G; Marra, Marco A MA; Madden, Kenneth M KM; Le, Nhu D ND; Connors, Joseph M JM; Brooks-Wilson, Angela R AR
Publication Date: 2009-08-14

Variant appearance in text: rs2163204
PubMed Link: 19680556
Variant Present in the following documents:
  • pone.0006641.s001.xls, sheet 1
View BVdb publication page



Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.

Human Molecular Genetics
Drenos, Fotios F; Talmud, Philippa J PJ; Casas, Juan P JP; Smeeth, Liam L; Palmen, Jutta J; Humphries, Steve E SE; Hingorani, Aroon D AD
Publication Date: 2009-06-15

Variant appearance in text: rs2163204
PubMed Link: 19336475
Variant Present in the following documents:
  • ddp159_1.pdf
View BVdb publication page