APOE c.490A>C ;(p.K164Q)

Variant ID: 19-45412043-A-C

NM_000041.2(APOE):c.490A>C;(p.K164Q)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: APOE: 490A>C; Lys164Gln
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: APOE: K164Q
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: APOE: K164Q
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
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: rs121918394
PubMed Link: 30076208
Variant Present in the following documents:
  • 10.1194_P086710_jlr.P086710-4.xlsx, sheet 3
View BVdb publication page



Extracellular Interactions between Hepatitis C Virus and Secreted Apolipoprotein E.

Journal Of Virology
Li, Zhihua Z; Li, Yadong Y; Bi, Yanwei Y; Zhang, Hui H; Yao, Yufeng Y; Li, Qihan Q; Cun, Wei W; Dong, Shaozhong S
Publication Date: 2017-08-01

Variant appearance in text: rs121918394
PubMed Link: 28539442
Variant Present in the following documents:
  • Main text
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: K164Q
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Genome-wide family-based linkage analysis of exome chip variants and cardiometabolic risk.

Genetic Epidemiology
Hellwege, Jacklyn N JN; Palmer, Nicholette D ND; Raffield, Laura M LM; Ng, Maggie C Y MC; Hawkins, Gregory A GA; Long, Jirong J; Lorenzo, Carlos C; Norris, Jill M JM; Ida Chen, Y-D YD; Speliotes, Elizabeth K EK; Rotter, Jerome I JI; Langefeld, Carl D CD; Wagenknecht, Lynne E LE; Bowden, Donald W DW
Publication Date: 2014-05

Variant appearance in text: APOE: K164Q; rs121918394
PubMed Link: 24719370
Variant Present in the following documents:
  • Main text
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: K164Q; rs121918394
PubMed Link: 22530123
Variant Present in the following documents:
  • Main text
  • NRI2012-480609.pdf
View BVdb publication page