Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.E189K
Back to variants list

APOE

NM_000041.4:p.E189K

Associated Papers

Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self-limited infantile epilepsy by trios whole-exome sequencing.

Sun Y et al.

Epilepsia Open, 2025

41416966 (PubMed )
Supplement: EPI4-11-280-s001.xlsx › TableS2.de_novo_mutations

Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features.

Matsunaga A et al.

Journal of Atherosclerosis and Thrombosis, 2025

Clinical and mutational characteristics of oculocutaneous albinism type 7.

Kruijt CC et al.

Scientific Reports, 2024

Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Zhou Y et al.

Journal of Lipid Research, 2018

30076208 (PubMed )
Supplement: 10.1194_P086710_jlr.P086710-4.xlsx › APOE

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

Masoodi TA et al.

Neurology Research International, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."