Varaico: Literature-Extracted Genetic Variants

Gene:NLGN3
Variant:p.G221R
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NLGN3

NM_181303.2:p.G221R

Associated Papers

Glucocorticoids rescue cell surface trafficking of R451C Neuroligin3 and enhance synapse formation.

Diamanti T et al.

Traffic (copenhagen, Denmark), 2024

Autism-associated R451C mutation in neuroligin3 leads to activation of the unfolded protein response in a PC12 Tet-On inducible system.

Ulbrich L et al.

The Biochemical Journal, 2016

Congenital hypothyroidism mutations affect common folding and trafficking in the α/β-hydrolase fold proteins.

De Jaco A et al.

The Febs Journal, 2012

Processing of cholinesterase-like α/β-hydrolase fold proteins: alterations associated with congenital disorders.

De Jaco A et al.

Protein and Peptide Letters, 2012

Neuroligin trafficking deficiencies arising from mutations in the alpha/beta-hydrolase fold protein family.

De Jaco A et al.

The Journal of Biological Chemistry, 2010

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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."