GENETIC ENCYCLOPEDIA
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gene: CASQ2

id845
symbolCASQ2
organismHomo sapiens
full namecalsequestrin 2
summaryThe protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008]
variant-disease

NM_001232.3(CASQ2):c.339_354del (p.Ser113fs) AND Ventricular tachycardia, catecholaminergic polymorphic, 2

NM_001232.3(CASQ2):c.1132_1134GAT[5] (p.Asp383del) AND not specified

NM_001232.3(CASQ2):c.226G>A (p.Val76Met) AND not specified

NM_001232.3(CASQ2):c.578_580delinsAC (p.Ile193fs) AND Catecholaminergic polymorphic ventricular tachycardia

NM_001232.3(CASQ2):c.97C>T (p.Arg33Ter) AND Ventricular tachycardia, catecholaminergic polymorphic, 2

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