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UNC93B1

Synonyms
IIAE1, UNC93, UNC93B, Unc-93B1
External resources
Summary
This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis.

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
16,994
Likely benign
4,177
Benign
1

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on UNC93B1 gene.

Phenotype class
Patients in 3billion (%)

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