APOE c.349G>A ;(p.A117T)

Variant ID: 19-45411902-G-A

NM_000041.2(APOE):c.349G>A;(p.A117T)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genetics of Alzheimer's disease: an East Asian perspective.

Journal Of Human Genetics
Miyashita, Akinori A; Kikuchi, Masataka M; Hara, Norikazu N; Ikeuchi, Takeshi T
Publication Date: 2022-06-01

Variant appearance in text: APOE: Ala117Thr; rs28931577
PubMed Link: 35641666
Variant Present in the following documents:
  • Main text
  • 10038_2022_Article_1050.pdf
View BVdb publication page



Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Journal Of Lipid Research
Dong, Weilai W; Wong, Karen H Y KHY; 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: 2022-06

Variant appearance in text: APOE: Ala117Thr
PubMed Link: 35460704
Variant Present in the following documents:
  • mmc1.pdf
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: rs28931577
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: APOE: A117T
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer's Disease.

Neurology Research International
Masoodi, Tariq Ahmad TA; Al Shammari, Sulaiman A SA; Al-Muammar, May N MN; Alhamdan, Adel A AA
Publication Date: 2012

Variant appearance in text: APOE: A117T; rs28931577
PubMed Link: 22530123
Variant Present in the following documents:
  • Main text
  • NRI2012-480609.pdf
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The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Rizzi, Thais S TS; Arias-Vasquez, Alejandro A; Rommelse, Nanda N; Kuntsi, Jonna J; Anney, Richard R; Asherson, Philip P; Buitelaar, Jan J; Banaschewski, Tobias T; Ebstein, Richard R; Ruano, Dina D; Van der Sluis, Sophie S; Markunas, Christina A CA; Garrett, Melanie E ME; Ashley-Koch, Allison E AE; Kollins, Scott H SH; Anastopoulos, Arthur D AD; Hansell, Narelle K NK; Wright, Margaret J MJ; Montgomery, Grant W GW; Martin, Nicholas G NG; Harris, Sarah E SE; Davies, Gail G; Tenesa, Albert A; Porteous, David J DJ; Starr, John M JM; Deary, Ian J IJ; St Pourcain, Beate B; Davey Smith, George G; Timpson, Nicholas J NJ; Evans, David M DM; Gill, Michael M; Miranda, Ana A; Mulas, Fernando F; Oades, Robert D RD; Roeyers, Herbert H; Rothenberger, Aribert A; Sergeant, Joseph J; Sonuga-Barke, Edmund E; Steinhausen, Hans Christoph HC; Taylor, Eric E; Faraone, Stephen V SV; Franke, Barbara B; Posthuma, Danielle D
Publication Date: 2011-03

Variant appearance in text: rs28931577
PubMed Link: 21302343
Variant Present in the following documents:
  • Main text
  • ajmg0156-0145.pdf
View BVdb publication page