Varaico: Literature-Extracted Genetic Variants

Gene:SERPINI1
Variant:p.L55P
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SERPINI1

NM_001122752.2:p.L55P

Associated Papers

Changes in strand 6B and helix B during neuroserpin inhibition: Implication in severity of clinical phenotype.

Ali MF et al.

Biochimica Et Biophysica Acta. Proteins and Proteomics, 2020

Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Dufva O et al.

Nature Communications, 2018

29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM5_ESM.xlsx › ANKL12

A hydrophobic patch surrounding Trp154 in human neuroserpin controls the helix F dynamics with implications in inhibition and aggregation.

Ali MF et al.

Scientific Reports, 2017

[α1-Antitrypsin deficiency].

Hirai T

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2016

Dynamic local unfolding in the serpin α-1 antitrypsin provides a mechanism for loop insertion and polymerization.

Krishnan B et al.

Nature Structural & Molecular Biology, 2011

Neuroserpin Portland (Ser52Arg) is trapped as an inactive intermediate that rapidly forms polymers: implications for the epilepsy seen in the dementia FENIB.

Belorgey D et al.

European Journal of Biochemistry, 2004

Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies.

Crowther DC et al.

European Journal of Human Genetics : Ejhg, 2004

Molecular mousetraps, alpha1-antitrypsin deficiency and the serpinopathies.

Lomas DA

Clinical Medicine (london, England), 0

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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."