UNC93B1 Chromosome 11
Unc-93B1 regulator of TLR signaling
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What This Gene Does
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. [provided by RefSeq, Feb 2014]
Associated Conditions (3)
Herpes simplex encephalitis
susceptibility to
1
Key Variants
RS567070908
Conflicting classifications of pathogenicity
Herpes simplex encephalitis, susceptibility to, 1
Health Risk
RS763186957
Conflicting classifications of pathogenicity
Herpes simplex encephalitis, susceptibility to, 1
Health Risk
RS1462011435
Likely pathogenic
Herpes simplex encephalitis, susceptibility to, 1
Health Risk
RS2495478605
Likely pathogenic
Herpes simplex encephalitis, susceptibility to, 1
Health Risk
RS1167385983
Pathogenic
Herpes simplex encephalitis, susceptibility to, 1
Health Risk
RS2495497804
Pathogenic
Herpes simplex encephalitis, susceptibility to, 1
Health Risk
RS753436679
Pathogenic
Herpes simplex encephalitis, susceptibility to, 1
Health Risk
RS759883057
Pathogenic
Herpes simplex encephalitis, susceptibility to, 1
Health Risk
RS772974041
Pathogenic
Herpes simplex encephalitis, susceptibility to, 1
Health Risk
RS780094017
risk factor
Herpes simplex encephalitis, susceptibility to, 1
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS567070908 | Health Risk | Conflicting classifications of pathogenicity | Herpes simplex encephalitis, susceptibility to, 1 |
| RS763186957 | Health Risk | Conflicting classifications of pathogenicity | Herpes simplex encephalitis, susceptibility to, 1 |
| RS1462011435 | Health Risk | Likely pathogenic | Herpes simplex encephalitis, susceptibility to, 1 |
| RS2495478605 | Health Risk | Likely pathogenic | Herpes simplex encephalitis, susceptibility to, 1 |
| RS1167385983 | Health Risk | Pathogenic | Herpes simplex encephalitis, susceptibility to, 1 |
| RS2495497804 | Health Risk | Pathogenic | Herpes simplex encephalitis, susceptibility to, 1 |
| RS753436679 | Health Risk | Pathogenic | Herpes simplex encephalitis, susceptibility to, 1 |
| RS759883057 | Health Risk | Pathogenic | Herpes simplex encephalitis, susceptibility to, 1 |
| RS772974041 | Health Risk | Pathogenic | Herpes simplex encephalitis, susceptibility to, 1 |
| RS780094017 | Health Risk | risk factor | Herpes simplex encephalitis, susceptibility to, 1 |