rs121913615
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Myelofibrosis
0.870
GeneticVariation
UNIPROT
DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL, and GCSFR, and comparison with germline DNA derived from buccal swabs, identified a somatic activating mutation in the transmembrane domain of MPL (W515L ) in 9% (4/45) of JAKV617F-negative MF .
16834459
2006
rs121913615
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Myelofibrosis
0.870
GeneticVariation
BEFREE
We conclude that MPL(W515L ) occurs in a considerable proportion of acute megakaryoblastic leukaemias with myelofibrosis unrelated to PMF.
19194467
2009
rs121913615
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Myelofibrosis
0.870
GeneticVariation
BEFREE
Of 217 patients with myelofibrosis , 19 (8.7%) harbored the MPLW515 mutation, 10 (52.6%) with the W515L allele.
18669880
2008
rs121913615
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Myelofibrosis
0.870
GeneticVariation
BEFREE
Screening and monitoring of MPL W515L mutation with real-time PCR in patients with myelofibrosis undergoing allogeneic-SCT.
20062088
2010
rs121913615
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Myelofibrosis
0.870
GeneticVariation
BEFREE
Evidence for MPL W515L /K mutations in hematopoietic stem cells in primitive myelofibrosis .
17709604
2007
rs121913615
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Myelofibrosis
0.870
GeneticVariation
BEFREE
DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL, and GCSFR, and comparison with germline DNA derived from buccal swabs, identified a somatic activating mutation in the transmembrane domain of MPL (W515L ) in 9% (4/45) of JAKV617F-negative MF .
16834459
2006
rs121913615
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Myelofibrosis
0.870
GeneticVariation
UNIPROT
MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients.
16868251
2006
rs121913615
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Myelofibrosis
T
0.870
CausalMutation
CLINVAR
rs121913615
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Myelofibrosis
0.870
GeneticVariation
BEFREE
The clinical and haematological phenotype of patients with myelofibrosis harbouring MPL(W515L /K) mutation has not been thoroughly investigated.
17408465
2007
rs121913615
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Myelofibrosis
0.870
GeneticVariation
BEFREE
The thrombopoietin receptor (MPL) has been shown to be mutated (MPL W515L ) in myelofibrosis and thrombocytosis yet new approaches to treat this disorder are still required.
26919114
2016
rs121913616
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Myelofibrosis
0.810
GeneticVariation
BEFREE
A series of primary and secondary acute myeloid leukaemias (AML) with megakaryoblastic phenotype and myelofibrosis unrelated to PMF (n=12) was analysed for the MPL(W515K /L) mutation by pyrosequencing.
19194467
2009
rs121913616
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Myelofibrosis
AA
0.810
CausalMutation
CLINVAR
rs121913616
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Myelofibrosis
0.810
GeneticVariation
UNIPROT
MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia.
16834459
2006
rs121913616
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Myelofibrosis
0.810
GeneticVariation
UNIPROT
MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients.
16868251
2006
rs121913614
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
THROMBOCYTHEMIA 2
0.800
GeneticVariation
UNIPROT
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.
25538044
2015
rs121913614
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
THROMBOCYTHEMIA 2
0.800
GeneticVariation
UNIPROT
Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin.
14764528
2004
rs121913614
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
THROMBOCYTHEMIA 2
A
0.800
CausalMutation
CLINVAR
rs121913614
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
THROMBOCYTHEMIA 2
0.800
GeneticVariation
UNIPROT
MPL W515L mutation in pediatric essential thrombocythemia.
23441089
2013
rs121913614
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
THROMBOCYTHEMIA 2
0.800
GeneticVariation
UNIPROT
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.
19483125
2009
rs28928907
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
C
0.800
CausalMutation
CLINVAR
Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics.
18240171
2008
rs28928907
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
C
0.800
CausalMutation
CLINVAR
Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases.
28859041
2018
rs28928907
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
C
0.800
CausalMutation
CLINVAR
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
16470591
2006
rs28928907
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
C
0.800
GeneticVariation
CLINVAR
rs28928907
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
C
0.800
CausalMutation
CLINVAR
In a previous study, we identified four missense mutations in CAMT patients, predicting Arg102Pro , Pro136His, Arg257Cys and Pro635Leu.
18422784
2008
rs28928907
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
0.800
GeneticVariation
UNIPROT