Gene: FLNC

Alternate names for this Gene: ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5

Gene Summary: This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7q32.1

Description of this Gene: filamin C

Type of Gene: protein-coding

Gene: FLNC-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

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rs1554401581 in FLNC;FLNC-AS1 gene and CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 PMID 27908349 2016 Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.

PMID 28008423 2016 FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.

rs1554401581 in FLNC;FLNC-AS1 gene and Filaminopathy, autosomal dominant PMID 27908349 2016 Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.

PMID 28008423 2016 FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.

rs1554401581 in FLNC;FLNC-AS1 gene and MYOPATHY, DISTAL, 4 PMID 28008423 2016 FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.

PMID 27908349 2016 Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.

rs1382734231 in FLNC;FLNC-AS1 gene and Restrictive cardiomyopathy PMID 30260051 2018 Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy.