unnamed protein product [Homo sapiens]

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Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects. [HGG Adv. 2023]
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX, Childers MC, Marvin CT, Marcello AJ, Gonorazky H, Hazrati LN, Dowling JJ, Al Amrani F, Alanay Y, Nieto Y, et al. HGG Adv. 2023 Jul 13; 4(3):100213. Epub 2023 Jun 15.
Description of a Novel Cardiac Phenotype Associated With a Missense Variant in the Cardiac α-Actin (ACTC1) Gene. [Circ Genom Precis Med. 2023]
Description of a Novel Cardiac Phenotype Associated With a Missense Variant in the Cardiac α-Actin (ACTC1) Gene.
Toledano-Delgado FJ, Jimenez-Alcantara I, Cobo-Molinos J, Carrasco-Avalos F, Mazuelos F, Urbano-Moral JA. Circ Genom Precis Med. 2023 Apr; 16(2):e003963. Epub 2023 Mar 24.
The Dark Side of Actin: Cardiac actin variants highlight the role of allostery in disease development. [Arch Biochem Biophys. 2020]
The Dark Side of Actin: Cardiac actin variants highlight the role of allostery in disease development.
Teng GZ, Dawson JF. Arch Biochem Biophys. 2020 Nov 30; 695:108624. Epub 2020 Oct 10.

RefSeq genomic sequence
See the genomic reference sequence for the ACTC1 gene (NG_007553.1).
RefSeq protein isoforms
See 6 reference sequence protein isoforms for the ACTC1 gene.

Nucleotide
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Protein