Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.P401L
Back to variants list

NPC1

NM_000271.5:p.P401L

Associated Papers

Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain.

Dubey V et al.

Plos Computational Biology, 2020

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.

Stampfer M et al.

Orphanet Journal of Rare Diseases, 2013

NPC-db, a Niemann-Pick type C disease gene variation database.

Runz H et al.

Human Mutation, 2008

Elucidating the mutational impact in causing Niemann-Pick disease type C: an in silico approach.

Kannan P et al.

Journal of Biomolecular Structure & Dynamics, 0

36264126 (PubMed )
Supplement: supplement_1.docx
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."