APOE c.52G>A ;(p.A18T)

Variant ID: 19-45411025-G-A

NM_000041.2(APOE):c.52G>A;(p.A18T)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Apolipoprotein E (APOE) Haplotypes in Healthy Subjects from Worldwide Macroareas: A Population Genetics Perspective for Cardiovascular Disease, Neurodegeneration, and Dementia.

Current Issues In Molecular Biology
Abondio, Paolo P; Bruno, Francesco F; Luiselli, Donata D
Publication Date: 2023-03-31

Variant appearance in text: rs533904656
PubMed Link: 37185708
Variant Present in the following documents:
  • Main text
  • cimb-45-00184.pdf
View BVdb publication page



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: APOE: A18T
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



Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023

Variant appearance in text: APOE: 52G>A; Ala18Thr
PubMed Link: 36923788
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Apolipoprotein E and Alzheimer's disease.

Acta Pharmaceutica Sinica. B
Troutwine, Benjamin R BR; Hamid, Laylan L; Lysaker, Colton R CR; Strope, Taylor A TA; Wilkins, Heather M HM
Publication Date: 2022-02

Variant appearance in text: APOE: A18T
PubMed Link: 35256931
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genome sequencing reveals the role of rare genomic variants in Chinese patients with symptomatic intracranial atherosclerotic disease.

Stroke And Vascular Neurology
Shi, Mengmeng M; Leng, Xinyi X; Li, Ying Y; Chen, Zihan Z; Cao, Ye Y; Chung, Tiffany T; Ip, Bonaventure Ym BY; Ip, Vincent Hl VH; Soo, Yannie Oy YO; Fan, Florence Sy FS; Ma, Sze Ho SH; Ma, Karen K; Chan, Anne Y Y AYY; Au, Lisa Wc LW; Leung, Howan H; Lau, Alexander Y AY; Mok, Vincent Ct VC; Choy, Kwong Wai KW; Dong, Zirui Z; Leung, Thomas W TW
Publication Date: 2022-06

Variant appearance in text: APOE: A18T
PubMed Link: 34880113
Variant Present in the following documents:
  • svn-2021-001157supp001.pdf
View BVdb publication page



Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics
Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY
Publication Date: 2021-02

Variant appearance in text: rs533904656
PubMed Link: 33600428
Variant Present in the following documents:
  • pgen.1009323.s010.xlsx, sheet 1
View BVdb publication page



Possible Role of Amyloidogenic Evolvability in Dementia with Lewy Bodies: Insights from Transgenic Mice Expressing P123H β-Synuclein.

International Journal Of Molecular Sciences
Fujita, Masayo M; Ho, Gilbert G; Takamatsu, Yoshiki Y; Wada, Ryoko R; Ikeda, Kazutaka K; Hashimoto, Makoto M
Publication Date: 2020-04-19

Variant appearance in text: APOE: A18T
PubMed Link: 32325870
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: APOE: A18T; rs533904656
PubMed Link: 30076208
Variant Present in the following documents:
  • Main text
  • 10.1194_P086710_jlr.P086710-4.xlsx, sheet 3
  • jlrP086710.pdf
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In silico analyses of deleterious missense SNPs of human apolipoprotein E3.

Scientific Reports
Pires, Allan S AS; Porto, William F WF; Franco, Octavio L OL; Alencar, Sérgio A SA
Publication Date: 2017-05-30

Variant appearance in text: APOE: Ala18Thr
PubMed Link: 28559539
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_1737.pdf
View BVdb publication page



The apolipoprotein E (APOE) gene appears functionally monomorphic in chimpanzees (Pan troglodytes).

Plos One
McIntosh, Annick M AM; Bennett, Calvin C; Dickson, Dara D; Anestis, Stephanie F SF; Watts, David P DP; Webster, Timothy H TH; Fontenot, M Babette MB; Bradley, Brenda J BJ
Publication Date: 2012

Variant appearance in text: APOE: A18T
PubMed Link: 23112842
Variant Present in the following documents:
  • Main text
View BVdb publication page