Homo sapiens calsequestrin 2 (CASQ2), RefSeqGene (LRG_404) on chromoso - Nucleotide

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Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome. [Genes (Basel). 2024]
Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome.
d'Apolito M, Santoro F, Ranaldi A, Ragnatela I, Colia AL, Cannito S, Margaglione A, D'Arienzo G, D'Andrea G, Pellegrino P, et al. Genes (Basel). 2024 Jun 21; 15(7). Epub 2024 Jun 21.
Pathogenicity Assignment of Variants in Genes Associated With Cardiac Channelopathies Evolve Toward Diagnostic Uncertainty. [Circ Genom Precis Med. 2022]
Pathogenicity Assignment of Variants in Genes Associated With Cardiac Channelopathies Evolve Toward Diagnostic Uncertainty.
Rosamilia MB, Lu IM, Landstrom AP. Circ Genom Precis Med. 2022 Jun; 15(3):e003491. Epub 2022 May 11.
A BioID-Derived Proximity Interactome for SARS-CoV-2 Proteins. [Viruses. 2022]
A BioID-Derived Proximity Interactome for SARS-CoV-2 Proteins.
May DG, Martin-Sancho L, Anschau V, Liu S, Chrisopulos RJ, Scott KL, Halfmann CT, Díaz Peña R, Pratt D, Campos AR, et al. Viruses. 2022 Mar 15; 14(3). Epub 2022 Mar 15.

Protein
Protein sequence from Nucleotide coding region
PubMed
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RNA
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SNP
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RecName: Full=Calsequestrin-2; AltName: Full=Calsequestrin, cardiac muscle isofo...
RecName: Full=Calsequestrin-2; AltName: Full=Calsequestrin, cardiac muscle isoform; Flags: Precursor
gi|23503043|sp|O14958.2|CASQ2_HUMAN

Protein
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1

MedGen
C1631597[conceptid] (1)
MedGen
HNRNPA1P43 heterogeneous nuclear ribonucleoprotein A1 pseudogene 43 [Homo sapien...
HNRNPA1P43 heterogeneous nuclear ribonucleoprotein A1 pseudogene 43 [Homo sapiens]
Gene ID:400769

Gene
NHLH2 nescient helix-loop-helix 2 [Homo sapiens]
NHLH2 nescient helix-loop-helix 2 [Homo sapiens]
Gene ID:4808

Gene

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Nucleotide