FYB1 Chromosome 5
FYN binding protein 1
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What This Gene Does
The protein encoded by this gene is an adapter for the FYN protein and LCP2 signaling cascades in T-cells. The encoded protein is involved in platelet activation and controls the expression of interleukin-2. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
Associated Conditions (2)
FYB1-related disorder
Thrombocytopenia 3
Key Variants
RS199923708
Conflicting classifications of pathogenicity
Health Risk
RS199924788
Conflicting classifications of pathogenicity
FYB1-related disorder, FYB1-related disorder
Health Risk
RS1060505056
Pathogenic
Thrombocytopenia 3, Thrombocytopenia 3
Health Risk
RS745672593
Pathogenic
Thrombocytopenia 3, Thrombocytopenia 3
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199923708 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199924788 | Health Risk | Conflicting classifications of pathogenicity | FYB1-related disorder, FYB1-related disorder |
| RS1060505056 | Health Risk | Pathogenic | Thrombocytopenia 3, Thrombocytopenia 3 |
| RS745672593 | Health Risk | Pathogenic | Thrombocytopenia 3, Thrombocytopenia 3 |