Varaico: Literature-Extracted Genetic Variants

Gene:SYNE2
Variant:p.T6211M
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SYNE2

NM_182914.3:p.T6211M

Associated Papers

Cargo recognition of Nesprin-2 by the dynein adapter Bicaudal D2 for a nuclear positioning pathway that is important for neuronal migration.

Putta S et al.

Biorxiv : the Preprint Server for Biology, 2025

The cytidine deaminase APOBEC3A regulates nucleolar function to promote cell growth and ribosome biogenesis.

McCool MA et al.

Plos Biology, 2024

38976757 (PubMed )
Supplement: pbio.3002718.s019.xlsx › Data_G_nuclear_variants

Nesprin-2 is a novel scaffold protein for telethonin and FHL-2 in the cardiomyocyte sarcomere.

Li C et al.

The Journal of Biological Chemistry, 2024

Nesprin-1: novel regulator of striated muscle nuclear positioning and mechanotransduction.

De Silva S et al.

Biochemical Society Transactions, 2023

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Savarese M et al.

Acta Neuropathologica Communications, 2014

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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."