SWISSVAR

1 protein found in SwissVar (3 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 congenital amegakaryocytic thrombocytopenia
P40238 TPOR_HUMAN thrombocythemia 2 p.Ser505Asn
p.Trp515Leu


P40238 TPOR_HUMAN myelofibrosis with myeloid metaplasia p.Trp515Leu
p.Trp515Lys