rs374058045

This variant is located in the SMAD6 gene.

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ClinVar annotation

Likely Benign★★★☆

4 submitters1 publication

Aortic valve disease 2; not provided; Inborn genetic diseases

About SMAD6

The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]

View all SMAD6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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