rs749003532

This variant is located in the SUN2 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

Emery-Dreifuss muscular dystrophy

About SUN2

SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic connection by formation of a 'bridge' across the nuclear envelope, known as the LINC complex, via interaction with the conserved luminal KASH domain of nesprins (e.g., SYNE1; MIM 608441) located in the outer nuclear membrane (ONM). The LINC complex provides a direct connection between the nuclear lamina and the cytoskeleton, which contributes to nuclear positioning and cellular rigidity (summary by Haque et al., 2010 [PubMed 19933576]).[supplied by OMIM, Nov 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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