APOE c.61G>A ;(p.E21K)

Variant ID: 19-45411034-G-A

NM_000041.2(APOE):c.61G>A;(p.E21K)

This variant was identified in 7 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: 61G>A; Glu21Lys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page


Genetic and molecular architecture of familial hypercholesterolemia.

Journal Of Internal Medicine
Abifadel, Marianne M; Boileau, Catherine C
Publication Date: 2022-10-04

Variant appearance in text: APOE: Glu21Lys
PubMed Link: 36196022
Variant Present in the following documents:
  • Main text
  • JOIM-293-144.pdf
View BVdb publication page


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: 61G>A; Glu21Lys; rs121918392
PubMed Link: 35641666
Variant Present in the following documents:
  • Main text
  • 10038_2022_Article_1050.pdf
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: rs121918392
PubMed Link: 30076208
Variant Present in the following documents:
  • 10.1194_P086710_jlr.P086710-4.xlsx, sheet 3
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: E21K
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page


Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.

Human Mutation
Marduel, Marie M; Ouguerram, Khadija K; Serre, Valérie V; Bonnefont-Rousselot, Dominique D; Marques-Pinheiro, Alice A; Erik Berge, Knut K; Devillers, Martine M; Luc, Gérald G; Lecerf, Jean-Michel JM; Tosolini, Laurent L; Erlich, Danièle D; Peloso, Gina M GM; Stitziel, Nathan N; Nitchké, Patrick P; Jaïs, Jean-Philippe JP; , ; Abifadel, Marianne M; Kathiresan, Sekar S; Leren, Trond Paul TP; Rabès, Jean-Pierre JP; Boileau, Catherine C; Varret, Mathilde M
Publication Date: 2013-01

Variant appearance in text: APOE: Glu21Lys
PubMed Link: 22949395
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: E21K; rs121918392
PubMed Link: 22530123
Variant Present in the following documents:
  • Main text
  • NRI2012-480609.pdf
View BVdb publication page