Varaico: Literature-Extracted Genetic Variants

Gene:SUN2
Variant:p.V378I
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SUN2

NM_015374.3:p.V378I

Associated Papers

Ablation of SUN2-containing LINC complexes drives cardiac hypertrophy without interstitial fibrosis.

Stewart RM et al.

Molecular Biology of the Cell, 2019

Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain.

Sun Y et al.

Journal of Neurology, 2019

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Pagnamenta AT et al.

Human Molecular Genetics, 2015

25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2

Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization.

Meinke P et al.

Plos Genetics, 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."