SWISSVAR

1 protein found in SwissVar (13 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 p.Arg102Pro
p.Arg102Cys
p.Phe104Ser
p.Pro136Leu
p.Trp154Arg
p.Arg257Leu
p.Pro275Thr
p.Trp435Cys
p.Leu594Trp









P40238 TPOR_HUMAN thrombocythemia 2 p.Pro106Leu
p.Ser505Asn
p.Trp515Leu



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