Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.K239E
Back to variants list

PSEN1

NM_000021.4:p.K239E

Associated Papers

The role of genetics in neurodegenerative dementia: a large cohort study in South China.

Jiao B et al.

Npj Genomic Medicine, 2021

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

Lanoiselée HM et al.

Plos Medicine, 2017

28350801 (PubMed )
Supplement: pmed.1002270.s001.xlsx › PSEN2_mutations

Presenilins function in ER calcium leak and Alzheimer's disease pathogenesis.

Supnet C et al.

Cell Calcium, 2011

Presenilins as endoplasmic reticulum calcium leak channels and Alzheimer's disease pathogenesis.

Supnet C et al.

Science China. Life Sciences, 2011

Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.

Nelson O et al.

Journal of Alzheimer's Disease : Jad, 2010

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."