rs2136501226

This variant is located in the GRK2 gene.

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ClinVar annotation

Likely Pathogenic

1 submitter1 publication

Jeune thoracic dystrophy

About GRK2

This gene encodes a member of the G protein-coupled receptor kinase family of proteins. The encoded protein phosphorylates the beta-adrenergic receptor as well as a wide range of other substrates including non-GPCR cell surface receptors, and cytoskeletal, mitochondrial, and transcription factor proteins. Data from rodent models supports a role for this gene in embryonic development, heart function and metabolism. Elevated expression of this gene has been observed in human patients with heart failure and Alzheimer's disease. [provided by RefSeq, Sep 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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