KEGG   VARIANT: 2318v1
Entry
2318v1                      Variant                                
Name
FLNC mutation
Gene
FLNC  filamin C [KO:K27393]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 102565
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00292  Hypertrophic cardiomyopathy
H00594  Distal myopathy
H00595  Myofibrillar myopathies
H01219  Restrictive cardiomyopathy
Reference
PMID:33557094
  Authors
Eden M, Frey N
  Title
Cardiac Filaminopathies: Illuminating the Divergent Role of Filamin C Mutations in Human Cardiomyopathy.
  Journal
J Clin Med 10:jcm10040577 (2021)
DOI:10.3390/jcm10040577
Reference
PMID:34405687
  Authors
Agarwal R, Paulo JA, Toepfer CN, Ewoldt JK, Sundaram S, Chopra A, Zhang Q, Gorham J, DePalma SR, Chen CS, Gygi SP, Seidman CE, Seidman JG
  Title
Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation.
  Journal
Circ Res 129:751-766 (2021)
DOI:10.1161/CIRCRESAHA.120.317076
Reference
PMID:34535832
  Authors
Song S, Shi A, Lian H, Hu S, Nie Y
  Title
Filamin C in cardiomyopathy: from physiological roles to DNA variants.
  Journal
Heart Fail Rev 27:1373-1385 (2022)
DOI:10.1007/s10741-021-10172-z
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