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TGFBRAP1

Synonyms
TRAP-1, TRAP1, VPS3
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
3,692
Likely benign
599
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on TGFBRAP1 gene.

Phenotype class
Patients in 3billion (%)

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