Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.L484Q
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HEXA

NM_000520.6:p.L484Q

Associated Papers

Pyrimethamine-based targeting of HEXA gene mutations in Tay-Sachs disease: a computational analysis.

Ranjani S et al.

Journal of Biomolecular Structure & Dynamics, 2026

In-silico screening and microsecond molecular dynamics simulations to identify single point mutations that destabilize β-hexosaminidase A causing Tay-Sachs disease.

Almanasra A et al.

Proteins, 2021

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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."