Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.K177I
Back to variants list

MAPT

NM_001377265.1:p.K177I

Associated Papers

CETN3 deficiency induces microcephaly by disrupting neural stem/progenitor cell fate through impaired centrosome assembly and RNA splicing.

Xu J et al.

Embo Molecular Medicine, 2025

40926052 (PubMed )
Supplement: 44321_2025_302_MOESM1_ESM.xls › ____

Clinical characteristics of semantic variant of primary progressive aphasia with TDP-43- and tau-related gene variants.

Ma Y et al.

Journal of Alzheimer's Disease : Jad, 2025

Genetic spectrum features and diagnostic accuracy of four plasma biomarkers in 248 Chinese patients with frontotemporal dementia.

Xu T et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

Genetic Screening of Patients with Sporadic Alzheimer's Disease and Frontotemporal Lobar Degeneration in the Chinese Population.

Li Y et al.

Journal of Alzheimer's Disease : Jad, 2024

Generation of human induced pluripotent stem cell lines SPPHIi003-A and SPPHIi004-A from two patients with sporadic Alzheimer's disease in Southwestern China.

Chen L et al.

Stem Cell Research, 2022

The Participation of the Intrinsically Disordered Regions of the bHLH-PAS Transcription Factors in Disease Development.

Kolonko-Adamska M et al.

International Journal of Molecular Sciences, 2021

Association of rare variants in neurodegenerative genes with familial Alzheimer's disease.

Zhang W et al.

Annals of Clinical and Translational Neurology, 2020

32941707 (PubMed )
Supplement: ACN3-7-1985-s003.xlsx › sheet

A network of RNA and protein interactions in Fronto Temporal Dementia.

Fontana F et al.

Frontiers in Molecular Neuroscience, 2015

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."