1 protein found in SwissVar (7 variants)
with gene/protein name P40238
Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.
| Accession | Entry name | Disease | Variants | 3D mapping (variant position) |
|---|---|---|---|---|
| P40238 | TPOR_HUMAN | p.Lys39Asn p.Ala58Val p.Val114Met p.Glu168Lys |
| |
| P40238 | TPOR_HUMAN | congenital amegakaryocytic thrombocytopenia | ||
| P40238 | TPOR_HUMAN | thrombocythemia 2 | p.Ser505Asn |
|
| P40238 | TPOR_HUMAN | myelofibrosis with myeloid metaplasia | p.Trp515Leu p.Trp515Lys |
|