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VBP1

Synonyms
HIBBJ46, PFD3, PFDN3, VBP-1
External resources
Summary
The protein encoded by this gene interacts with the Von Hippel-Lindau protein to form an intracellular complex. The encoded protein functions as a chaperone protein, and may play a role in the transport of the Von Hippel-Lindau protein from the perinuclear granules to the nucleus or cytoplasm. Alternative splicing and the use of alternate transcription start sites results in multiple transcript variants encoding different protein isoforms.

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
1,110
Likely benign
195
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on VBP1 gene.

Phenotype class
Patients in 3billion (%)

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