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AIP

Synonyms
ARA9, FKBP16, FKBP37, PITA1, SMTPHN, XAP-2, XAP2
External resources
Summary
The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. Three transcript variants encoding different isoforms have been found for this gene.

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
1,794
Likely benign
1,346
Benign
4,505

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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