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REG3A

Synonyms
HIP, HIP/PAP, INGAP, PAP, PAP-H, PAP1, PBCGF, REG-III, REG3
External resources
Summary
This gene encodes a pancreatic secretory protein that may be involved in cell proliferation or differentiation. It has similarity to the C-type lectin superfamily. The enhanced expression of this gene is observed during pancreatic inflammation and liver carcinogenesis. The mature protein also functions as an antimicrobial protein with antibacterial activity. Alternate splicing results in multiple transcript variants that encode the same protein.

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
9,177
Likely benign
26,678
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on REG3A gene.

Phenotype class
Patients in 3billion (%)

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