Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.E389K
Back to variants list

MAPT

NM_001377265.1:p.E389K

Associated Papers

Clinical profile, atrophy and inheritance patterns of pathogenic MAPT gene mutations in Frontotemporal dementia detected using whole exome sequencing: a single-center first report from India.

Ramakrishnan S et al.

Bmc Neurology, 2025

Disparate and shared transcriptomic signatures associated with cortical atrophy in genetic behavioral variant frontotemporal degeneration.

Shen T et al.

Molecular Neurodegeneration, 2025

39920674 (PubMed )
Supplement: 13024_2025_806_MOESM1_ESM.pdf

Analysis of Genotype-Phenotype Correlations in Patients With Degenerative Dementia Through the Whole Exome Sequencing.

Sun L et al.

Frontiers in Aging Neuroscience, 2021

The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Sun J et al.

Genomics, Proteomics & Bioinformatics, 2020

32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6

Rapidly Progressive Frontotemporal Dementia Associated with MAPT Mutation G389R.

Sun L et al.

Journal of Alzheimer's Disease : Jad, 2017

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."