rs1677233453

This variant is located in the TGFBRAP1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About TGFBRAP1

This gene encodes a protein that binds to transforming growth factor-beta (TGF-beta) receptors and plays a role in TGF-beta signaling. The encoded protein acts as a chaprone in signaling downstream of TGF-beta. It is involved in signal-dependent association with SMAD4. The protein is also a component of mammalian CORVET, a multisubunit tethering protein complex that is involved in fusion of early endosomes. [provided by RefSeq, Jun 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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