Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.N295S
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HEXA

NM_000520.6:p.N295S

Associated Papers

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

Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.

Ou L et al.

Molecular Genetics and Metabolism Reports, 2019

Association between targeted somatic mutation (TSM) signatures and HGS-OvCa progression.

Lindley RA et al.

Cancer Medicine, 2016

27485054 (PubMed )
Supplement: CAM4-5-2629-s002.pdf

Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.

Tanaka A et al.

Journal of Human Genetics, 2003

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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."