IRF2BP2 Chromosome 1
Interferon regulatory factor 2 binding protein 2
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What This Gene Does
This gene encodes an interferon regulatory factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Associated Conditions (4)
Immunodeficiency
common variable
14
IRF2BP2-related disorder
Key Variants
RS148187914
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 14
Health Risk
RS2528524093
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 14
Health Risk
RS763561337
Conflicting classifications of pathogenicity
Health Risk
RS1399395271
Likely pathogenic
Immunodeficiency, common variable, 14
Health Risk
RS2528523329
Likely pathogenic
Immunodeficiency, common variable, 14
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148187914 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 14 |
| RS2528524093 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 14 |
| RS763561337 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1399395271 | Health Risk | Likely pathogenic | Immunodeficiency, common variable, 14 |
| RS2528523329 | Health Risk | Likely pathogenic | Immunodeficiency, common variable, 14 |