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IFNAR1

Synonyms
AVP, IFN-alpha-REC, IFNAR, IFNBR, IFRC
External resources
Summary
The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The protein belongs to the type II cytokine receptor family and functions as an antiviral factor.

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
2,898
Likely benign
706
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on IFNAR1 gene.

Phenotype class
Patients in 3billion (%)

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