present in Gene: MPL
present in Chromosome: 1
Position on Chromosome: 43349308
Alleles of this Variant: G/A
rs121913614 in
MPL gene and
Chronic myeloproliferative disorder
PMID 23970983 2013 The diagnosis and clinical course of a case of MPL S505N-positive MPN are presented with diagnostic features and treatment response resembling typical ET but with evidence of increasing bone marrow fibrosis.
PMID 18528423 2008 New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition.
PMID 18451306 2008 MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort.
rs121913614 in
MPL gene and
Primary Myelofibrosis
PMID 20151976 2010 Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis.
PMID 18528423 2008 New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition.
rs121913614 in
MPL gene and
THROMBOCYTHEMIA 1
PMID 18451306 2008 MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort.
PMID 20151976 2010 Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis.
PMID 18528423 2008 New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition.
PMID 19608689 2009 Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia.
rs121913614 in
MPL gene and
THROMBOCYTHEMIA 2
PMID 25538044 2015 The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.
PMID 23441089 2013 MPL W515L mutation in pediatric essential thrombocythemia.
PMID 14764528 2004 Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin.
PMID 19483125 2009 The Asn505 mutation of the c-MPL gene, which causes familial essential thrombocythemia, induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polarity.