rs1567198027

This variant is located in the CRTC3 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About CRTC3

This gene is a member of the CREB regulated transcription coactivator gene family. This family regulates CREB-dependent gene transcription in a phosphorylation-independent manner and may be selective for cAMP-responsive genes. The protein encoded by this gene may induce mitochondrial biogenesis and attenuate catecholamine signaling in adipose tissue. A translocation event between this gene and Notch coactivator mastermind-like gene 2, which results in a fusion protein, has been reported in mucoepidermoid carcinomas. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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