Varaico: Literature-Extracted Genetic Variants

Gene:DNM2
Variant:p.E611K
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DNM2

NM_001005361.3:p.E611K

Associated Papers

A novel DNM2 variant associated with centronuclear myopathy: a case report.

Rimoldi M et al.

Frontiers in Genetics, 2025

40259930 (PubMed )
Supplement: DataSheet1.pdf

Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues.

Laiman J et al.

Current Opinion in Cell Biology, 2023

Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy.

Trochet D et al.

Molecular Therapy. Nucleic Acids, 2022

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy.

Biancalana V et al.

Acta Neuropathologica Communications, 2018

Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.

Morin RD et al.

Nature, 2011

21796119 (PubMed )
Supplement: NIHMS313098-supplement-6.xls › table_1_validation_with_RNA_seq
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